Journal of Neurologic Physical Therapy:
Physical Therapy as Conservative Management for Cervical Pain and Headaches in an Adolescent with Neurofibromatosis Type 1: A Case Study
Helmers, Kristin M. DPT, CLT; Irwin, Kent E. PT, MS, GCS
Department of Rehabilitation, Evergreen Hospital Medical Center (K.M.H.), Kirkland, Washington; and Physical Therapy Program, College of Health Sciences, Midwestern University (K.E.I.), Downers Grove, Illinois.
Address correspondence to: Kent E. Irwin, E-mail: firstname.lastname@example.org
Background and Purpose: Neurofibromatosis is a group of genetic disorders that affect the development and growth of nerve cell tissues. These disorders include tumors of myelin-producing supportive cells that grow on nerves and can cause changes in bone formation, skin integrity, and nerve transmission. Common musculoskeletal impairments associated with neurofibromatosis type 1 (NF 1) include cervical pain, muscle weakness, muscle stiffness, headaches, and postural deviations.
Case Description: This case study describes successful physical therapy management and outcomes for cervical pain and headaches in a 17-year-old girl with a 16-year history of NF 1. Difficulties in driving, studying, lifting, and participating in recreational activities were all associated with the patient’s pain, decreased cervical range of motion, decreased scapular strength, and postural deviations.
Interventions: Physical therapy interventions included posture training, dynamic shoulder/scapular strengthening, cervical stabilization, stretching, ultrasound, interferential current, and a progressive home exercise program.
Outcomes: By the end of 13 weeks (20 sessions) of physical therapy, the patient was completely pain free, demonstrated increased cervical range of motion, and had improvements in scapular strength. She returned to full and unrestricted recreational activities, driving, studying, and household chores. Furthermore, scores on the Neck Disability Index improved from 44 of 50 (complete disability) to 2 of 50 (no disability).
Discussion: Physical therapy may be a viable option for conservative management of musculoskeletal dysfunction and functional limitations resulting from NF 1.
Neurofibromatosis is a group of genetic disorders that affect the development and growth of nerve cell tissues.1 These disorders include tumors of myelin-producing supportive cells that grow on nerves and can cause changes in bone formation, skin integrity, and nerve transmission.1,2 Three distinct clinical forms of neurofibromatosis have been classified, and one mosaic form is currently being researched. Neurofibromatosis type 1 (NF 1) is the most common form, affecting approximately one in 3000-4000 people in the United States.2,3 Previously known as von Recklinghausen disease, NF 1 is characterized by hyperpigmented patches of skin, called café-au-lait macules, and neurofibromas.2 NF 2 is a rarer form of neurofibromatosis and affects one in 33,000-40,000 people in the United States.1 NF 2 is characterized by bilateral tumors affecting the eighth cranial nerve. Early symptoms usually include tinnitus, poor balance, headaches, and facial pain or numbness.1 The third distinct form, segmental NF, is considered to be a version of NF 1 and only affects specific body segments.2 A fourth mosaic form, schwannomatosis, is currently being researched and is described as deep, painful, benign schwannomas.2
NF 1 affects males and females equally; likewise, it affects all races and ethnic groups equally.2 The tumors generally become symptomatic at a young age but progress at various rates throughout life.4 The prognosis for NF 1 is typically based on age of onset and tumor location. Individuals with NF 1 frequently have worsening symptoms, although a small number may have symptoms that remain unchanged.1 In general, most persons with NF 1 will develop mild to moderate symptoms; however, there is a risk of life-threatening complications5 usually associated with malignancy6,7 and vascular disease.8 The mean age for mortality in persons with NF 1 (54.4 years) has been shown to be approximately 15 years less than that of the general US population (currently 70.1 years).8 The three major causes of death listed in this group of persons with NF 1 were malignant neoplasms, heart disease, and vascular disease.8
Although the disorder is usually inherited, 30%-50% of cases result from a spontaneous gene mutation.1 NF 1 results from a defect in the tumor suppressor gene that predisposes the individual to cancer.2 The most common tumor and sign of NF 1 are the neurofibroma,3 which can be either cutaneous or plexiform. Cutaneous neurofibromas are found in the subcutaneous tissue consisting of axons and Schwann cells and are typically seen in 12% of individuals with NF 1.2 This type of neurofibroma appears after puberty and has no potential for malignancy.3 Plexiform neurofibromas are peripheral nerve sheath tumors3 arising from large nerve roots2 and contain all elements of the peripheral nerve, along with an increased endoneurial matrix with separation of nerve fascicles and proliferation of Schwann cells.3 Plexiform neurofibromas typically appear at birth but can also emerge during childhood and early adulthood.9 An incidence of 4.6%10 and a lifetime risk of 8%-13%11 for malignant peripheral nerve sheath tumor formation have been reported in individuals with NF 1. The criteria for diagnosing NF 1 are described in Table 1.2,3,12 In addition to café-au-lait spots on the skin and neurofibromas, NF 1 can also involve multiple systems of the body as a result of complications from primary lesions.13,14 Systems involved may include the gastrointestinal tract (abdominal pain), musculoskeletal system (skeletal deformities), endocrine and metabolic functions (hyperparathyroidism), and functions of the central nervous system, eyes, and ears.14 Within the cardiovascular system, essential hypertension or vascular disease-induced hypertension (renal artery stenosis or aortic stenosis) can be present in persons with NF 1.12–14
NF 1 is associated with vision loss/changes due to optic tumors and learning disabilities thought to be related to benign spongiform differences in the brain.3 Studies have shown a slight reduction in general intellectual functioning, with IQ scores falling between average and low average for students with NF 1.15,16 Difficulties with academic achievement were identified in 52% of a sample of individuals with NF 1,16 and most cognitive deficits were reported in the areas of reading, spelling, mathematics,15 planning, visuospatial perception, and sustained attention.16 Attention-deficit/hyperactivity disorder, along with general tendencies for distraction, is also common in children with NF 1.13 Based on clinical presentation, the severity of NF 1 is classified using the following scale:
Grade 1 (minimal):
presence of a few NF 1 features with no compromise of health
Grade 2 (mild):
presence of a sufficient number of NF 1 features to make the disease obvious and a source of concern
Grade 3 (moderate):
definite compromise of affected systems but can be managed and usually will not lead to a shortened life span
Grade 4 (severe):
serious compromise that is intractable, can only be treated with difficulty, and may lead to a shortened life span13
The usefulness of this severity grading scale may be limited because of its lack of specific descriptors and because of the wide variety of signs and symptoms associated with this condition.12
In approximately 50% of individuals with NF 1, the plexiform neurofibromas are located in the head, neck, face, and larynx regions.3 The clinical presentation of NF 1 is widely variable as the following conditions have been reported in children and adults with head/cervical plexiform neurofibromas: decreased fine motor skills and motor speed,15 upper and lower extremity pain or weakness,3 dysphagia and airway compromise,4 enlarged soft tissue mass,4 paralysis,17 spastic hemiparesis,18 and spinal deformities.2,3 Additionally, compression of spinal nerve roots by neurofibromas may cause radiculopathy and motor loss.19 The cervical consequences of NF 1 can include soft tissue abnormalities and spinal deformities.2,20 Spinal deformities caused by neurofibromas have been associated with cervical pain and restricted cervical motion.21 Headaches and facial paralysis or pain can result from tumors pressing on head or cervical structures. In cases in which there are pain and/or bony changes of the head and cervical spine, decreased cervical mobility, muscle imbalances, and postural asymmetries frequently cause functional limitations and participation restrictions in home, school, work, or recreational activities.
Functionally, individuals with NF 1 who have associated cervical dysfunction may have difficulty with activities of daily living, including dressing, washing, grooming, carrying, and lifting. Participating in safe driving and completing tasks in a work environment such as typing on a computer, reading documents, or working on an assembly line may prove to be challenging. An adolescent may have difficulty in concentrating at school, carrying games or schoolbooks, doing chores at home, and brushing hair. Diminished concentration and headaches can limit the ability to complete functional tasks. Impairments that relate to these functional limitations and participation restrictions include cervical pain, decreased cervical range of motion (ROM), upper extremity weakness, cervical kyphosis, and cervical scoliosis.
In more severe cases, management of NF 1 involves the surgical removal or resection of the tumor.2 Surgery is performed when the tumor is malignant, compressing vital structures, repeatedly symptomatic, or cosmetically displeasing.2,4 Not all tumors require surgery; some neurofibromas remain nonproblematic for long periods of time with few, if any, symptoms.4 Continual (usually annual) monitoring of the neurofibromas by magnetic resonance imaging (MRI) is mandatory because the tumors may suddenly and rapidly start growth cycles or become malignant.2 Recent literature has focused on the surgical management of neurofibromas to alleviate symptoms; however, not all neurofibromas are appropriate for surgical excision.2 The research is inconclusive regarding when surgery should be performed and what type of surgery should be performed.2 In children, surgery is the main line of treatment for malignant plexiform neurofibromas,6,9,22 whereas a “watchful waiting” approach has been advocated for benign neurofibromas.23 Conservative treatment may be beneficial in reducing or eliminating associated secondary conditions and symptoms during periods in which the tumors do not meet criteria for surgery.
In a published case study, a 45-year-old woman with NF 1 and associated bilateral upper extremity paresthesias, low back pain, and cervical pain/headaches received weekly sessions of lumbopelvic spinal manipulation, interferential current therapy, heat, and rehabilitative exercise.24 Nine months of these combined interventions resulted in a reduction in headache frequency, decreased low back pain, near resolution of paresthesias, and improved energy and balance at her job as an assembly line worker.24 Cervical spine manipulation was contraindicated because the cervical radiographs showed erosion and destruction of the pedicles, apophyseal pillars, and posterior vertebral bodies from C6 to T1. Radiographs showed no gross contraindications to lumbopelvic spinal manipulation. Lumbopelvic strengthening and wobble board proprioceptive enhancement were briefly mentioned as the rehabilitation exercises to facilitate proprioception and promote balance improvements; however, the specific intensities, durations, and repetitions of the interventions were not described. Interestingly, the authors did not mention specific interventions for the cervical dysfunction. The authors affirmed that, along with other healthcare professionals, physical therapists may play an important role in conservative management for individuals with NF 1 to address secondary musculoskeletal and neuromuscular impairments affecting function.24
To our knowledge, descriptions of specific physical therapy management for individuals with cervical dysfunction associated with NF 1 have not been reported in the literature; however, intervention guidelines have been reported for non-NF 1-related musculoskeletal dysfunction in the cervicothoracic region.25,26 The Orthopedic Section of the American Physical Therapy Association published the following interventions as clinical practice guidelines for persons with neck pain but without absolute or relative contraindications based on systemic disease: cervical and thoracic mobilization/manipulation, stretching exercises, coordination, strengthening and endurance exercises, centralization procedures, upper quarter and nerve mobilization procedures, traction, and education and counseling.26 Kay et al27 and Walker et al28 reported strong evidence of spinal mobilization combined with exercise to reduce pain and increase perceived functional ability. Specifically, the following exercises have been shown to improve isometric cervical strength and/or ROM in individuals with cervical dysfunction: shrugs, reverse flies, upright rows, one arm rows, lateral shoulder raises,29–31 and progressive isometric and dynamic neck exercises in flexion, extension, and rotation.32–34 Therapeutic massage has been reported to contribute to decreased pain and increased perceived functional ability in individuals with cervical dysfunction35–37; however, other authors have not given a recommendation for this intervention because of inconclusive evidence.38 The use of transcutaneous electrical nerve stimulation, heat, interferential current, and ultrasound has not been shown to be effective for persons with cervical dysfunction25,39–41 or has been reported to provide only short-term symptom relief at best.42,43
With training in movement function/dysfunction, body mechanics, exercise, manual therapy, and pain management,44 physical therapists are in a unique position to address the functional limitations and participation restrictions associated with cervical dysfunction in persons with NF 1. To address functional limitations and participation restrictions in home, school, work, or recreational activities, the physical therapist must understand the underlying medical condition(s), cervical dysfunction, and physical requirements for regular daily activities. Physical therapists can directly influence a change in behavior by decreasing discomfort in the musculoskeletal system, correcting faulty movement patterns through education, and supervising a progressive return to physical activities. Because there is strong evidence of cervical mobilization and manipulation to address cervical pain,25–28 this recommendation may need to be modified in persons with NF 1 who have tumors in the cervical region that could adversely affect spinal stability.24 The purpose of this case study was to describe successful physical therapy management and outcomes for cervical pain and headaches in a 17-year-old girl with NF 1. For this case study, the patient’s rights were protected with appropriate informed consent and approval of the Midwestern University Institutional Review Board.
The patient was a 17-year-old girl with a diagnosis of NF 1 at one year of age based on the presence of café-au-lait spots and Lisch nodules. At the age of 12 years, she underwent an MRI scan of her head because of recurrent vomiting and an episode of nystagmus. The MRI scan showed a large, benign plexiform neurofibroma at the base of the skull involving the external auditory canal, sphenoid bone, right temporal mandibular joint, and segments of her facial nerve. Her pediatrician noticed bilateral axillary and inguinal freckling, scattered cutaneous neurofibromas on her chest and back, and bilateral myopia, along with the previous findings of café-au-lait spots and Lisch nodules. The pediatrician determined that the patient’s recurrent vomiting was due to stress rather than the location of the tumor. At the age of 16 years, the patient had new symptoms of intermittent, severe headaches. A subsequent examination by her pediatrician showed an additionally narrowed (but not obstructed) external auditory meatus and a bulge in the right side soft palate. Previous clinical findings on computed tomography (CT) scan persisted but did not worsen since the initial MRI scan at the age of 12 years. The patient visited the local NF clinic where the physician confirmed all previous findings, and a subsequent MRI scan showed no growth of the benign tumor at the base of her skull.
At the age of 17 years, three weeks before her first physical therapy session, the patient reported renewed symptoms of cervical pain, shoulder pain, and intermittent headaches. She visited her pediatric neurosurgeon for an evaluation, which included another CT scan that revealed a small soft tissue mass located inferior to the right ear within the sinus cavity but lateral to the sternocleidomastoid muscle. A biopsy determined that the newly found plexiform neurofibroma inferior to the right ear was benign. The CT scan also confirmed the presence of the previously identified large plexiform neurofibroma at the base of the skull, and it showed no change from the previous imaging. The physician recommended conservative management of her symptoms at this time and referred her to physical therapy to address cervical dysfunction and headaches.
During the first physical therapy session, the patient stated that she lived with her father and older sisters who provided transportation and assisted with her care. In elementary school, she required special assistance because of a learning disability, but since that time had not required assistance for schoolwork. As a high school junior, she actively participated in the arts and theater programs. Because of vision difficulties associated with NF 1, she wore special corrective eyeglasses with prisms for improved vision. Cervical pain and headaches reportedly interfered with her concentration and preparation for upcoming school examinations. She stated that because of neck pain, she had difficulty in turning her head as a beginning driver, carrying her purse and backpack, and washing and styling her hair.
The patient’s goals for physical therapy were to have reduced cervical pain and headaches and to be able to fully participate in school and recreational activities. Her chief symptoms consisted of cervical pain and mid-thoracic pain that was greater on the right than the left side. On a scale of 0 to 10, she rated her pain as 6 on average and as 8-9 at its worst. She described her pain as sharp and intermittent and stated that it had begun 3 weeks earlier. An aggravating factor was looking up, down, or over the shoulders in either direction. Alleviating factors included lying down and a Tramadol pain patch. The patient also reported frequent frontal headaches that occurred once every second day. She denied episodes of dizziness, balance loss, and numbness and tingling in the upper extremities.
The physical therapist observed the patient in the standing position from the front, back, and both sides. The patient’s postural deviations included a slightly forward neck and chin (forward head posture), rounded upper back (thoracic kyphosis), elevated right shoulder, and a left-tilted head position.45 Palpation provoked tenderness bilaterally over the upper trapezius, levator scapulae, and the cervical and thoracic erector spinae muscles. The right sternocleidomastoid and scalene muscles were also tender to palpation. Although the cervical ROM instrument or a single inclinometer is recommended to measure cervical active ROM (AROM),46 neither of these devices was available; therefore, the physical therapist measured cervical AROM using a universal goniometer with the patient in a seated position.47 Intrarater reliability (intraclass correlation coefficient) of the universal goniometer ranged from 0.78 to 0.90 and interrater reliability ranged from 0.54 to 0.79 for active cervical motion.48 When compared with American Medical Association guidelines,49 the patient’s bilateral cervical rotation and lateral flexion motions were restricted. Here cervical AROM measurements are reported in Table 2.
With the patient supine, passive right and left cervical side gliding (lateral translatory motion) techniques were used to identify potential pain locations and specific cervical mobility restrictions.50 The cervical side gliding tests did not elicit pain or neurological symptoms and did not indicate cervical mobility restrictions. The patient actively flexed, extended, laterally flexed (bilaterally), and rotated (bilaterally) for trunk ROM assessment. Gross lumbar and thoracic AROM were without limitation. The patient showed no abnormalities in gross AROM of both upper extremities. Although formal scapular mobility was not assessed, she demonstrated bilateral scapular winging during active shoulder abduction. Deep tendon reflexes were scored on a scale of 0-4+, where 0 = no response, 1+ = present but depressed, 2+ = average/normal, 3+ = increased, and 4+ = very brisk with clonus.51 The reflex scores were biceps (C5): right = 2+ and left = 3+; triceps (C6): right and left = 3+; and brachioradialis (C7): right and left = 3+. No abnormalities were noted with C1-C8 dermatomal testing. For strength testing, the patient was positioned according to previously published manual muscle testing (MMT) positions.52 The correlation coefficients for intrarater reliability of MMT ranged from 0.63 to 0.98 for individual muscle groups.53,54 MMT revealed weakness in proximal shoulder muscles (R > L) and moderate weakness in scapular stabilizers bilaterally (Table 2). Cervical muscles were weak and painful and were not formally tested because of the patient’s anxiety. The initial examination did not include testing of specific functional tasks. The Neck Disability Index (NDI) was administered as a questionnaire to measure the patient’s perceived level of disability from cervical dysfunction.55 The NDI consists of 10 items for self-assessment: pain intensity, personal care, lifting, reading, headache, concentration, work, driving, sleeping, and recreation.55,56 Each item is scored from 0 to 5, with higher scores representing greater levels of perceived disability. The item scores are summed into a raw score out of 50 and then categorized into a level of disability where 0-4 = no disability, 5-14 = mild, 15-24 = moderate, 25-34 = severe, and 35-50 = complete.55 The test-retest reliability of the NDI has an intraclass correlation coefficient of 0.50-0.9355,57,58 and does not have an age or sex effect.55 The NDI has concurrent validity with the visual analog score for pain (r = 0.50) and the Short Form-36 Health Survey Questionnaire (r = −0.45 to −0.74).57 The patient’s NDI scores are shown in Table 2.
Evaluation and Diagnosis
Based on the patient’s history and physical therapy examination results, impairments in body structures and functions, limitations in her activities, and restrictions in participation related to her condition were categorized using the World Health Organization’s International Classification of Functioning, Disability, and Health model (Table 3).59,60
The patient’s dominant symptoms restricting her independent lifestyle included pain, decreased cervical ROM, and decreased middle/lower scapular muscle strength. We hypothesized that scapular muscle imbalance, posture asymmetries, and her reluctance to perform cervical movement because of soft tissue restrictions of the upper trapezius muscles contributed to the cervical pain. We also inferred that cervical musculature tightness, muscle guarding, and cervical pain partially contributed to the headaches. Unfortunately, the possibility of tumors compressing the cervical structures causing cervical pain and headaches could not be ruled out. The patient’s clinical presentation correlated with Musculoskeletal Practice Pattern 4B: Impaired Posture with an associated ICD-9-CM code of 723.1 (cervicalgia).44 Although the patient had a large plexiform neurofibroma at the base of her skull that involved segments of the right facial nerve, the physical therapy examination did not reveal denervation of any peripheral nerves. According to the severity of grading scale, the patient’s NF 1 condition would be classified as a grade 2 (mild).13
Because of the wide variability in clinical presentation, unpredictable progression of NF 1, and unknown growth rates of plexiform neurofibromas,9 the overall medical prognosis for this patient was unknown. Hersh5 reported that one third of individuals with NF 1 have severe complications, whereas one half are only mildly affected. This patient was not a surgical candidate because her clinical presentation was mild, she had no cosmetic deformities, did not have radiculopathy or loss of motor function, and surgical excision of benign plexiform neurofibromas are difficult because of their proximity to vital structures.7 The patient had good rehabilitation potential with conservative physical therapy management because of her previous high level of functioning, young age, positive family support, and a motivation to return to school activities. According to APTA’s Guide to Physical Therapist Practice,44 80% of patients classified into Practice Pattern 4B will achieve expected outcomes in six to 20 visits during the course of three to six months. The plan of care included physical therapy twice weekly for 30-45 minutes sessions for four weeks to address cervical dysfunction, headaches, and promote return to previous activities. Two-week short-term goals were as follows: (1) patient will have decreased pain in the cervical region (6 of 10 at its worst) when performing activities of daily living, (2) patient will have decreased pain in the cervical region (4 of 10 on average) to concentrate on her homework for one hour, and (3) patient will have increased cervical rotation and lateral flexion to brush and style her hair. Specific four-week long-term goals were as follows: (1) patient will carry her purse comfortably with no more than 3 of 10 cervical pain at its worst, (2) patient will maintain consistent overhead shoulder positioning when using the hair dryer without experiencing fatigue in the right cervical and shoulder regions, (3) patient will safely carry schoolbooks in her backpack throughout the day and after school, and (4) patient will safely and efficiently perform driving skills without neck pain or movement restrictions.
Physical therapy interventions were designed to facilitate the patient’s return to full activities and participation in school and recreational activities without pain or movement restrictions. Weekly interventions and parameters, rationale, and patient report/findings are described in the Appendix. Although ultrasound and therapeutic massage provided early pain relief and reduced muscle tightness, the more critical components of the rehabilitation program emphasized posture training, dynamic shoulder and scapular muscle strengthening, cervical stabilization, and a gradual return to full activities and participation. To adequately progress the patient, we hypothesized that she required an early reduction in pain and muscle tightness and improved posture. Therefore, the physical therapy interventions initially consisted of patient education in posture and positioning, a progressive home exercise program, manual cervical traction,61 therapeutic ultrasound,62 strain/counterstrain,63,64 and the therapeutic massage techniques of effleurage and petrissage.36,37,65 Patient education focused on proper sitting and standing postures along with instruction in appropriate body mechanics for lifting. The patient was instructed to practice these postures when studying, driving, eating at the dinner table, and doing chores at home. The specific home AROM exercises were intended to facilitate the improvement in functional deficits such as turning the head to clear traffic, carrying a purse or backpack, and performing yard work.
Although cervical and thoracic spinal mobilization techniques are recommended for individuals with neck pain,26 these techniques were not used for this patient for three reasons: (1) the primary restrictions were thought to be muscular in origin, (2) MRI results during week 2 showed two new neurofibromas in the C2 region, and (3) there is no literature describing these techniques in an adolescent with NF 1. Instead of cervical spinal mobilization, the physical therapist performed a more conservative technique, manual cervical traction,61,66 to provide pain relief, gentle cervical spine distraction, direct stretching of the suboccipital muscles, and indirect stretching of the upper trapezius muscles. The physical therapist discontinued manual cervical traction after session 16 because the patient had no cervical muscle soreness/pain during this session.
The use of ultrasound to the upper trapezius in conjunction with neck-stretching exercises has been reported to relieve neck pain and improve cervical lateral flexion ROM in persons with myofascial pain syndrome.62 Ultrasound is contraindicated in the presence of malignancy67; therefore, communication with the patient’s physician ensured that the plexiform neurofibromas were benign. Because there is evidence that ultrasound can provide short-term symptom relief at best, this intervention helped calm the patient at the beginning of the first 10 physical therapy sessions by relieving pain, providing heat, and increasing circulation to the cervicothoracic region.67 Once the pain had consistently subsided, the physical therapist discontinued the use of ultrasound. However, interferential current42,67–69 and a moist hot pack were added at the end of sessions 9 to 16 to provide short-term relief of upper trapezius muscle discomfort. The patient participated in therapeutic exercises that incorporated muscle endurance training, ROM, and strengthening. An upper body ergometer32 was used to increase shoulder and upper back muscle endurance while simulating body postures typically used during driving and typing. During the course of physical therapy, the patient’s tolerance for this reciprocal exercise improved from 30 seconds to 6 minutes with minimal to no pain. Progressive isometric exercises70 for the cervical flexors, extensors, rotators, and lateral flexors were implemented through application of manual resistance applied at the forehead, occiput, or lateral sides of the head; the level of resistance was increased when the patient tolerated the exercise with no additional pain.
Resistance exercises targeting the shoulder musculature have been reported to improve cervical pain, ROM, or strength in persons with cervical dysfunction.29–31 The patient in this case study received instructions in progressive resistance exercises that specifically targeted her middle/upper trapezius muscles, scapular retractors, and shoulder flexors. The patient initially used a Theraband for strengthening exercises but then advanced to free weights and a cable column (pulley system). The beginning exercise intensity was 50% of a one-repetition maximum.71 This initial intensity ensured minimal risk of cervical pain and headache exacerbation. Exercises were progressed (increased resistance, repetitions, and sets) when the patient tolerated each exercise without additional pain and without substitutions from other muscles. The patient performed a cervical stabilization exercise during week 8 when significant cervical muscle guarding and pain subsided. This exercise was intended to re-educate the cervical muscles to correctly support the cervical spine during functional activities. Furthermore, the patient participated in prone rowing and the “superman trunk extension” exercise (shoulders flexed and arms lifted off the mat) for both the middle and lower trapezius muscles with a free weight in each hand. During weeks 9 and 10, wall push-ups and resistance were added to the cervical stabilization exercise to further challenge the patient. The physical therapy sessions did not include specific functional training tasks. The patient demonstrated a high level of motivation as indicated by strict adherence to the progressive home exercise program and a willingness to fully participate in 20 physical therapy sessions (22 scheduled and two cancelled) over a 13-week timeframe.
Re-evaluation during week 4 (session 8) indicated that the patient made gains in cervical AROM and right shoulder strength (Table 2). At that time, the first three short-term goals and the first long-term goal were met. The patient studied for additional hours without a headache and carried her purse without associated cervical pain; however, at session 9, she reported 3 out of 10 cervical pain after carrying a heavy purse. During week 10 (session 19), a second re-evaluation revealed further improvements in cervical AROM as well as shoulder and scapular strength (Table 2). The patient’s 10-week cervical AROM improvements for each initially restricted motion met or exceeded published minimal detectable change (MDC) values for right lateral flexion (MDC = 10 degrees) and left and right rotation (MDC = 13.9 degrees), whereas left lateral flexion (MDC = 19 degrees) did not.72 She rated her cervical pain as 0 of 10 on average and 1 of 10 at its worst. The patient returned to driving, shopping, carrying schoolbooks, shooting basketball hoops with friends, and helping her father work in the yard. Her ability to concentrate at school greatly improved and she took a four-hour state examination with no resultant cervical pain or headaches.
The NDI administered at weeks 5 (session 9) and 10 (session 19) revealed a significant decrease in the patient’s perceived level of disability when compared with the NDI score at session 1 (Table 2). All areas rated on the NDI showed improvement, including pain, personal care, lifting and carrying, reading, headaches, concentration, working/school, driving, sleeping, and recreational activities. The physical therapist discharged the patient from physical therapy because she met all the initial goals and she returned to full pain-free functional activities and participation levels. At discharge, the patient demonstrated no tightness or tenderness to palpation in the upper trapezius and sternocleidomastoid muscles. She received an updated home exercise program along with cervical injury prevention education. Because there was the possibility of recurrence of cervical dysfunction, patient education included further instruction in proper posture and positioning when working, using the computer, driving, studying, and grooming. A subsequent appointment with the physician resulted in an additional physical therapy referral, once weekly for one month, to focus on re-education, home exercise program progression, and symptom exacerbation monitoring. After two visits over two weeks, the patient demonstrated independence in all educational components of her condition and ability to self-progress her home exercise program; therefore, she was discharged from physical therapy.
This case study describes successful physical therapy management and outcomes for cervical pain and headaches in a 17-year-old girl with NF 1. She ultimately returned to all personal activities (self-care, lifting, and studying) and societal role participation (driving, shopping, and playing basketball with friends) without pain or movement restrictions. A unique feature of this patient included the four plexiform neurofibromas at various locations in the head/neck regions. Furthermore, a radiology report obtained after the first few physical therapy sessions noted that one of the neurofibromas was causing the internal carotid artery to be displaced anteriorly. Because of this finding, the carotid artery test and vertebral artery test should have been performed at the beginning of the next session to ensure that there was no vascular compromise. Bilateral cervical rotation and contralateral lateral flexion end ranges may have been a concern during physical therapy sessions because of the internal carotid artery displacement. The physical therapist continuously monitored the patient for neurological changes; she never experienced a significant increase in pain nor did she report dizziness, numbness, or tingling.
Even though the literature lacks descriptions of specific physical therapy interventions for cervical dysfunction in adolescents with NF 1, the orthopedic literature provides intervention guidance for improving cervical pain, ROM limitations, muscle weakness, and functional abilities in persons with cervical dysfunction.26–31,73 Boissonnault and Badke73 reported physical therapy intervention categories for individuals with cervical disorders having symptom duration less than one month. The ICD-9-CM codes used in the study were the same (723.1) or similar (723.4) to the patient in this case study. The authors described percentages of individuals receiving interventions in the following categories: strengthening exercises (86%), flexibility exercises (84%), manipulation or mobilization (63%), massage techniques (31%), heat modalities (4%), endurance exercises (6%), and cold modalities (2%). The categories used to decrease cervical pain and facilitate an improvement in function were similar to those used for the patient in this case study except manipulation/mobilization and cold modalities. When compared with the individuals in the descriptive study by Boissonnault and Badke,73 the patient in this case study fell within the reported ranges for age (15-73 years; mean = 44.7 ± 13.7 years), number of visits (three to 23; mean = 6.2 ± 3.6), and intervention duration (two to 37 weeks; mean = 8.9 ± 6.7 weeks). In the previous study, only 4% of the individuals received heat modalities; although heat modalities were used to a greater extent in this case study, they were only used as an adjunct to exercise or manual therapy.
The NDI scores changed dramatically over 10 weeks from 44 of 50 (complete disability) to 2 of 50 (no disability) exceeding the minimal clinically important difference (MCID; 9.5 points) in persons with a primary report of neck pain.58 The patient’s retrospective reporting of the NDI during session 9 representing session 1 allowed a possible threat to validity as the initially perceived disability may have been exaggerated. The following impairment level differences most likely had a positive impact on the patient’s progress in functional activities and participation in school and recreation: decreased cervical pain and headaches resulted in an improved ability to concentrate and study; improved upper trapezius muscle length as well as increased cervical AROM allowed safe driving and no difficulties with styling hair; and increased shoulder and scapular strength provided stability to carry schoolbooks and shop with friends.
This case study has several key limitations. First, a comprehensive passive vertebral motion testing approach would have been beneficial to include in the examination to further assess cervical and thoracic segmental mobility and pain provocation.26 Likewise, assessing joint play of the scapula and glenohumeral joints as well as testing the functional combined motions of the upper extremities would provide additional diagnostic information. Second, frequent cervical muscle assessments using resisted tests would determine whether the flexors, extensors, lateral flexors, and rotators continued to stay weak and painful,74 as well as gauge improvements in strength with interventions. Third, incorporating functional training tasks such as carrying a loaded backpack up and down stairs, passing and dribbling a basketball, and driving would allow an avenue to qualify and quantify the patient’s movement patterns. Fourth, when the patient returned with an updated physician’s referral for further physical therapy at week 5, new and revised functional goals should have been implemented to emphasize a progression toward patient-specific participation levels. Finally, ultrasound, interferential current, and moist hot packs provided cervical pain relief and patient relaxation before and after the physical therapy sessions. Because heat was effective for pain relief and patient relaxation, this could have been prescribed as a part of the home exercise program to make clinic sessions more time efficient. All modalities were discontinued when the patient had no cervical pain, headaches, soreness, and tenderness to palpation. Overall, the utilization of modalities for 17 of the 20 physical therapy sessions was probably not the best use of skilled physical therapy time especially because the patient tolerated increases in strengthening exercise repetitions and resistance during week 5.
Individuals with NF 1 can present with a wide variety of signs, symptoms, and musculoskeletal conditions typically seen by physical therapists. Physical therapists working with individuals with cervical dysfunction associated with NF 1 must constantly monitor for acute neurologic deficits, dizziness or nystagmus, vision changes, a sudden increase in pain, and cervical instability. Frequent communication with other medical providers is imperative because of the unpredictable nature of NF 1. This case study describes successful physical therapy management and outcomes for cervical dysfunction in a 17-year-old girl with NF 1. By the end of 13 weeks of outpatient physical therapy, the patient was reportedly pain free during daily activities and demonstrated improved cervical AROM and shoulder and scapular strength. She returned to full and unrestricted recreational activities, driving, studying, and household chores. The patient’s perceived level of disability from cervical dysfunction, as measured by the NDI, improved significantly from 44 of 50 (complete disability) to 2 of 50 (no disability). Physical therapy may be a viable option for conservative management of musculoskeletal dysfunction and functional limitations resulting from NF 1. Future studies should investigate the safety and appropriateness of spinal mobilization combined with exercise to treat cervical dysfunction in persons with NF 1.
2.Crawford AH, Parikh S, Schorry EK, et al. The immature spine in type-1 neurofibromatosis. J Bone Joint Surg Am. 2007;89(suppl 1):123–142.
3.Wise JB, Cryer JE, Belasco JB, et al. Management of head and neck plexiform neurofibromas in pediatric patients with neurofibromatosis type 1. Arch Otolaryngol Head Neck Surg. 2005;131:712–718.
4.Rapado F, Simo R, Small M. Neurofibromatosis type 1 of the head and neck: dilemmas in management. J Laryngol Otol. 2001;115:151–154.
5.Hersh JH. Health supervision for children with neurofibromatosis. Pediatrics. 2008;121:633–642.
6.Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 2002;62:1573–1577.
7.Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44:81–88.
8.Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68:1110–1118.
9.Williams VC, Lucas J, Babcock MA, et al. Neurofibromatosis type 1 revisited. Pediatrics. 2009;123:124–133.
10.Ducatman BS, Scheithauer BW, Piepgras DG, et al. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer. 1986;57:2006–2021.
11.Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002;39:311–314.
12.Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278:51–57.
13.Goldberg Y, Dibbern K, Klein J, et al. Neurofibromatosis type 1—an update and review for the primary pediatrician. Clin Pediatr (Phila). 1996;35:545–561.
15.Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65:1037–1044.
16.Hyman SL, Shores EA, North KN. Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Dev Med Child Neurol. 2006;48:973–977.
17.Elias MM, Balm AJ, Peterse JL, et al. Malignant schwannoma of the parapharyngeal space in von Recklinghausen’s disease: a case report and review of the literature. J Laryngol Otol. 1993;107:848–852.
18.Sarica F, Tufan K, Cekinmez M, et al. Dumbell-shaped neurofibroma of the upper cervical spine: a case report. J Nervous Sys Surgery. 2008;1:190–194.
19.Levy WJ, Latchaw J, Hahn JF, et al. Spinal neurofibromas: a report of 66 cases and a comparison with meningiomas. Neurosurgery. 1986;18:331–334.
20.Craig JB, Govender S. Neurofibromatosis of the cervical spine. A report of eight cases. J Bone Joint Surg Br. 1992;74:575–578.
21.Yong-Hing K, Kalamchi A, MacEwen GD. Cervical spine abnormalities in neurofibromatosis. J Bone Joint Surg Am. 1979;61:695–699.
22.Friedrich RE, Hartmann M, Mautner VF. Malignant peripheral nerve sheath tumors (MPNST) in NF1-affected children. Anticancer Res. 2007;27:1957–1960.
23.Wozniak W, Karwacki MW. Is “watchful waiting” superior to surgery in children with neurofibromatosis type 1 presenting with extracranial and extramedullary tumor mass at diagnosis? Childs Nerv Syst. 2008;24:1431–1436.
24.Gajeski BL, Kettner NW, Awwad EE, et al. Neurofibromatosis type I: clinical and imaging features of Von Recklinghausen’s disease. J Manipulative Physiol Ther. 2003;26:116–127.
25.Hurwitz EL, Carragee EJ, van der Velde G, et al. Treatment of neck pain: noninvasive interventions: results of the Bone and Joint Decade 2000-2010 Task Force on Neck Pain and Its Associated Disorders. Spine. 2008;33:S123–S152.
26.Childs JD, Cleland JA, Elliott JM, et al. Neck pain: Clinical practice guidelines linked to the International Classification of Functioning, Disability, and Health from the Orthopedic Section of the American Physical Therapy Association. J Orthop Sports Phys Ther. 2008;38:A1–A34.
27.Kay TM, Gross A, Goldsmith C, et al. Exercises for mechanical neck disorders. Cochrane Database Syst Rev. 2005:CD004250.
28.Walker MJ, Boyles RE, Young BA, et al. The effectiveness of manual physical therapy and exercise for mechanical neck pain: a randomized clinical trial. Spine. 2008;33:2371–2378.
29.Andersen LL, Andersen CH, Zebis MK, et al. Effect of physical training on function of chronically painful muscles: a randomized controlled trial. J Appl Physiol. 2008;105:1796–1801.
30.Andersen LL, Kjaer M, Andersen CH, et al. Muscle activation during selected strength exercises in women with chronic neck muscle pain. Phys Ther. 2008;88:703–711.
31.Andersen LL, Kjaer M, Sogaard K, et al. Effect of two contrasting types of physical exercise on chronic neck muscle pain. Arthritis Rheum. 2008;59:84–91.
32.Evans R, Bronfort G, Nelson B, et al. Two-year follow-up of a randomized clinical trial of spinal manipulation and two types of exercise for patients with chronic neck pain. Spine. 2002;27:2383–2389.
33.Bronfort G, Evans R, Nelson B, et al. A randomized clinical trial of exercise and spinal manipulation for patients with chronic neck pain. Spine. 2001;26:788–797; discussion 798–799.
34.Ylinen J, Takala EP, Nykanen M, et al. Active neck muscle training in the treatment of chronic neck pain in women: a randomized controlled trial. JAMA. 2003;289:2509–2516.
35.Ylinen J, Kautiainen H, Wiren K, et al. Stretching exercises vs manual therapy in treatment of chronic neck pain: a randomized, controlled cross-over trial. J Rehabil Med. 2007;39:126–132.
36.Sherman KJ, Cherkin DC, Hawkes RJ, et al. Randomized trial of therapeutic massage for chronic neck pain. Clin J Pain. 2009;25:233–238.
37.Costello M. Treatment of a patient with cervical radiculopathy using thoracic spine thrust manipulation, soft tissue mobilization, and exercise. J Man Manip Ther. 2008;16:129–135.
38.Ezzo J, Haraldsson BG, Gross AR, et al. Massage for mechanical neck disorders: a systematic review. Spine. 2007;32:353–362.
39.Gam AN, Warming S, Larsen LH, et al. Treatment of myofascial trigger-points with ultrasound combined with massage and exercise—a randomised controlled trial. Pain. 1998;77:73–79.
40.Philadelphia Panel. Evidence-based clinical practice guidelines on selected rehabilitation interventions for neck pain. Phys Ther. 2001;81:1701–1717.
41.Swenson RS. Therapeutic modalities in the management of nonspecific neck pain. Phys Med Rehabil Clin N Am. 2003;14:605–627.
42.Hou CR, Tsai LC, Cheng KF, et al. Immediate effects of various physical therapeutic modalities on cervical myofascial pain and trigger-point sensitivity. Arch Phys Med Rehabil. 2002;83:1406–1414.
43.Jensen I, Harms-Ringdahl K. Strategies for prevention and management of musculoskeletal conditions. Neck pain. Best Pract Res Clin Rheumatol. 2007;21:93–108.
44.American Physical Therapy Association. Guide to Physical Therapist Practice. 2nd ed. Alexandria, VA: American Physical Therapy Association; 2001 (revised June 2003):13–738.
45.Magee D. Orthopedic Physical Assessment. 4th ed. Philadelphia: Saunders Elsevier; 2002:873–903.
46.de Koning CH, van den Heuvel SP, Staal JB, et al. Clinimetric evaluation of active range of motion measures in patients with non-specific neck pain: a systematic review. Eur Spine J. 2008;17:905–921.
47.Norkin C, White D. Measurement of Joint Motion: A Guide to Goniometry. 3rd ed. Philadelphia: F.A. Davis Company; 2003:295–329.
48.Youdas JW, Carey JR, Garrett TR. Reliability of measurements of cervical spine range of motion—comparison of three methods. Phys Ther. 1991;71:98–104; discussion 105–106.
49.American Medical Association. Guides to the Evaluation of Permanent Impairment. 3rd (revised) ed. Chicago, IL: AMA; 1988.
50.Petersen CM, Foley RA. Active and Passive Movement Testing. New York: McGraw-Hill Companies, Inc.; 2002:333.
51.O’Sullivan S, Schmitz T. Physical Rehabilitation. 5th ed. Philadelphia: F.A. Davis Company; 2007:237.
52.Hislop H, Montgomery J. Daniels and Worthingham’s Muscle Testing: Techniques of Manual Examination. 8th ed. St. Louis: Saunders Elsevier; 2007:61–122.
53.Cuthbert SC, Goodheart GJ Jr. On the reliability and validity of manual muscle testing: a literature review. Chiropr Osteopat. 2007;15:4.
54.Wadsworth CT, Krishnan R, Sear M, et al. Intrarater reliability of manual muscle testing and hand-held dynametric muscle testing. Phys Ther. 1987;67:1342–1347.
55.Vernon H, Mior S. The Neck Disability Index: a study of reliability and validity. J Manipulative Physiol Ther. 1991;14:409–415.
56.Cleland JA, Fritz JM, Whitman JM, et al. The reliability and construct validity of the Neck Disability Index and patient specific functional scale in patients with cervical radiculopathy. Spine. 2006;31:598–602.
57.McCarthy MJ, Grevitt MP, Silcocks P, et al. The reliability of the Vernon and Mior neck disability index, and its validity compared with the short form-36 health survey questionnaire. Eur Spine J. 2007;16:2111–2117.
58.Cleland JA, Childs JD, Whitman JM. Psychometric properties of the Neck Disability Index and Numeric Pain Rating Scale in patients with mechanical neck pain. Arch Phys Med Rehabil. 2008;89:69–74.
59.Rundell SD, Davenport TE, Wagner T. Physical therapist management of acute and chronic low back pain using the World Health Organization’s International Classification of Functioning, Disability and Health. Phys Ther. 2009;89:82–90.
60.World Health Organization. International Classification of Functioning, Disability and Health: ICF. Geneva, Switzerland: WHO; 2001.
61.Kisner C, Colby L. Therapeutic Exercise: Foundations and Techniques. 5th ed. Philadelphia, PA: F. A. Davis Company; 2007:446.
62.Esenyel M, Caglar N, Aldemir T. Treatment of myofascial pain. Am J Phys Med Rehabil. 2000;79:48–52.
63.Ibanez-Garcia J, Alburquerque-Sendin F, Rodriguez-Blanco C, et al. Changes in masseter muscle trigger points following strain-counterstrain or neuro-muscular technique. J Bodyw Mov Ther. 2009;13:2–10.
64.Collins CK. Physical therapy management of complex regional pain syndrome I in a 14-year-old patient using strain counterstrain: a case report. J Man Manip Ther. 2007;15:25–41.
65.Tappan F, Benjamin P. Tappan’s Handbook of Healing Massage Techniques. 4th ed. Upper Saddle River, New Jersey: Prentice Hall; 2005.
66.Gross AR, Hoving JL, Haines TA, et al. A Cochrane review of manipulation and mobilization for mechanical neck disorders. Spine. 2004;29:1541–1548.
67.Cameron M. Physical Agents in Rehabilitation: From Research to Practice. 3rd ed. St. Louis: Saunders Elsevier; 2009:177–191, 216–237.
68.Goats GC. Interferential current therapy. Br J Sports Med. 1990;24:87–92.
69.Johnson MI, Tabasam G. An investigation into the analgesic effects of interferential currents and transcutaneous electrical nerve stimulation on experimentally induced ischemic pain in otherwise pain-free volunteers. Phys Ther. 2003;83:208–223.
70.Goldie I, Landquist A. Evaluation of the effects of different forms of physiotherapy in cervical pain. Scand J Rehabil Med. 1970;2:117–121.
71.Kraemer WJ, Adams K, Cafarelli E, et al. American College of Sports Medicine position stand. Progression models in resistance training for healthy adults. Med Sci Sports Exerc. 2002;34:364–380.
72.Cleland JA, Childs JD, Fritz JM, et al. Interrater reliability of the history and physical examination in patients with mechanical neck pain. Arch Phys Med Rehabil. 2006;87:1388–1395.
73.Boissonnault WG, Badke MB. Influence of acuity on physical therapy outcomes for patients with cervical disorders. Arch Phys Med Rehabil. 2008;89:81–86.
74.Dvir Z, Prushansky T. Cervical muscles strength testing: methods and clinical implications. J Manipulative Physiol Ther. 2008;31:518–524.
Neurofibromatosis; physical therapy; cervical pain; Neck Disability Index
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