Stiff-person syndrome (SPS), also known as stiff-man syndrome or Moersch-Woltman Syndrome, was first described in 1956.1 The patients' principal complaints included stiffness (ie, rigidity), primarily in the trunk muscles, that was superimposed by spasms, resulting in postural abnormalities, gait difficulties, and a tendency to ‘fall like a wooden man.’ Hence, Moersch and Woltman coined the term “stiff-man syndrome.”1
Although many articles have been published on SPS, there is a lack of information about physical therapy (PT) management of patients with SPS. A few authors recommend PT for patients with SPS,2–5 but little insight regarding specific PT management strategies is provided. However, given the impairments (eg, muscle stiffness and spasms) and functional limitations that result from SPS, patients may benefit from PT. Thus, the purpose of this paper is to provide an overview of SPS and to report a case describing the specific PT management strategies used during a brief inpatient rehabilitation stay for a patient with the condition. Additionally, the case report will illustrate the use of the patient/client management model as described in the Guide to Physical Therapist Practice.6
SPS is a rare condition with an unknown incidence and prevalence. From 1966 — 1999, approximately 100 cases were reported in the literature.7 Given the rarity of the syndrome, and thus, a lack of awareness and understanding, SPS is underdiagnosed. Although the condition is typically referred to as stiff man syndrome, the term stiff person syndrome is more suitable, as men and women tend to be equally affected.2 In McEvoy's review of the literature on SPS, 43 cases were female and 51 were male; the average age at diagnosis was 40 years of age, with a range from 8 years to 76 years.8
ETIOLOGY AND PATHOLOGY
The cause of SPS is unclear. However, the frequent presence of antibodies against glutamic acid decarboxylase (GAD) in the serum and cerebrospinal fluid of patients with SPS points to an autoimmune process.9,10 Additionally, many patients with SPS have other types of autoimmune conditions, such as insulin dependent diabetes mellitus, thyroid disease, pernicious anemia, vitiligo, cancer, and myasthenia gravis.11–16 Interestingly, not all patients with SPS have antibodies against GAD, but the proportion who do is significantly higher than in patients with other neurological conditions.9
GAD is a cytoplasmic enzyme, stored at nerve terminals, that is responsible for the conversion of glutamate to γ-aminobutyric acid (GABA), an inhibitory neurotransmitter.17 In a healthy state, GABA and norepinephrine (an excitatory neurotransmitter) are in balance, normalizing the upper motor neuron impulses to lower motor neurons (LMN) and the LMN release of acetylcholine to skeletal muscles. However, in a person with SPS, antibodies directed against GAD are produced, likely resulting in a proportional increase in norepinephrine within the brainstem and spinal cord, causing excessive excitation to the LMN. This in turn increases the release of acetylcholine that excites skeletal muscles, causing increased stiffness.4
The pathologic site of involvement in SPS remains unclear. Levy18 reported reductions of GABA in the cerebrospinal fluid, motor cortex, posterior occipital cortex, and spinal cord. Spada and Spada4 postulated the site of involvement to the brainstem and spinal cord anterior horn cells. Brown et al19 suggested that spinal interneuronitis is the likely cause of stiff-leg syndrome. Floeter et al20 hypothesized that patients with SPS would have abnormalities of spinal inhibitory (ie, GABAergic) circuits, but found inconclusive results. However, Mamoli et al21 suggested a supra-spinal origin resulting in over-excitability of alpha motor neurons and disinhibition of polysynaptic neurons. This hypothesis has been supported by Sandbrink et al22 and Floeter.23
DIAGNOSIS AND CLASSIFICATION
Due to the rarity and a lack of understanding of SPS, the diagnosis is often one of exclusion and can take months to years to confirm. Dalakas et al12 reported that the average time from onset of symptoms to diagnosis was 6.2 years (range 1 – 18). Tarsy and Miyawaki24 reported about a patient who was symptomatic for 22 years before a diagnosis of SPS was made. Many patients with SPS, particularly those with phobias,25 are often misdiagnosed as having conversion or other psychiatric disorders.26–28
In 1989, Lorish et al5 described 7 key criteria needed to definitively diagnose SPS (Table 1). In addition, the presence of antibodies against GAD in the serum and cerebrospinal fluid may assist in the diagnosis of SPS.9
Both Barker et al29 and Brown and Marsden30 proposed classification schemes, differentiating ‘classical’ SPS from its variants. Based on the collective works of these authors and others, it appears that there are 4 forms of SPS: classical stiff person syndrome, SPS with encephalitis and rigidity, stiff-limb syndrome, and jerking-leg syndrome. Table 2 compares the clinical presentations of the various forms of SPS.19,29–34
CLINICAL PRESENTATION AND DISEASE COURSE
The onset of SPS is insidious with primary symptoms of intermittent stiffness, rigidity, or tightness involving the trunk musculature1 that can result in low back pain.3 Over time, the stiffness spreads symmetrically to other muscles, most often those of the proximal bilateral lower extremities (BLE), and becomes more constant. In some patients, a stressful life event precedes the onset of permanent motor symptoms.26
There are varying reports regarding the distribution of motor symptoms. Although some authors state that the distal BLE, bilateral upper extremities (BUE), and facial muscles are typically not affected,8,11,35 others report that this is not the case.1,2,12,21,36,37 Toro et al2 stated that distal BLE muscles might be affected in severe cases. Moersch & Woltman1 reported that proximal involvement predominates, and the hands and feet are mildly affected, at most. They also noted that some patients experienced involvement of facial and neck muscles, interfering with breathing and swallowing. Layzer36 reported that approximately one quarter of patients have mild involvement of the bulbar muscles. Mamoli et al21 reported a case in which spasms resulted in cyanosis and what the authors referred to as ‘respiratory oppression.’ Clifton and Subramony37 discussed a patient with severe neck rigidity, resulting in an inability to turn the head. Dalakas et al12 reported facial muscle stiffness in the majority of their patients.
The course of SPS is slowly progressive, developing over several weeks or months, and, although symptoms rarely remit, they can stabilize over time. The stiffness often results in postural abnormalities, most notably an extreme lumbar lordosis with hypertrophy of the paraspinal muscles.5 In cases where neck and upper back muscles are involved, the patient may have a persistent kyphosis.8 Additionally, the abdominal muscles may be affected and have been reported to feel ‘board-like.’1 Patients often have a stiff-legged gait pattern and are prone to sudden falls, yet most can remain ambulatory with treatment.38 Due to the truncal involvement, most patients have difficulty bending over, affecting the ability to dress.5
The degree of stiffness tends to fluctuate and is superimposed by intermittent painful spasms triggered by a sudden stimulus, such as a touch, a fright, or a noise. Emotional upset may exacerbate the symptoms and many patients report a fear of walking in open spaces. The spasms are often bilateral and begin with a myoclonic jerk followed by tonic muscle contractions.39 Profuse sweating and a rise in blood pressure may accompany the spasms.8 The severity of pain appears to relate to the degree of spasms,1 which may cause muscle tearing, fractures, or damage to internal orthopedic hardware.36 The spasms tend to disappear during sleep, but may suddenly recur, awakening the patient.5 Patients have been known to have varying patterns of spasms, including crossed flexor responses of the BLE, extension and pronation of the BUE, trunk extension, or an opisthotonic posture.11,39
As might be expected, patients with SPS often have emotional and psychological symptoms related to their condition. The most common problems appear to be depression and anxiety;27,40 however, substance abuse,27 including increased reliance on pain medications,28 panic disorder,41 increased emotionality and concern for bodily functions,42 and phobias25,26 have also been reported. The phobias most often develop after the motor symptoms and tend to be a situation-specific agoraphobia, and are most commonly related to walking quickly or in open areas. Also, quality of life is often diminished in patients with SPS.40
A number of pharmacological agents have been reported to be helpful for patients with SPS; however, the majority of reports are anecdotal. Diazepam,21,24 baclofen,21,43–47 botulinum toxin A,48,49 tiagabine,50 and corticosteroids13 have generally been found to be helpful, as have plasmapheresis51 and intravenous administration of immunoglobulin.52–56
Patients may benefit from a multidisciplinary and holistic approach to care.28 Kiriakos and Franco41 advocate the use of antianxiety and antidepressant medications, relaxation training, and psychotherapy to deal with psychological problems. A few authors recommend PT for patients with SPS.2–5 Lorish et al described the results of various PT interventions for 7 patients, reporting that active range of motion (ROM), gentle prolonged stretching, low back exercises, and gait training with assistive devices appear to be most effective.5 Exercises determined to be useful included gastrocsoleus stretches, as well as pelvic tilts, knee to chest stretches, and isometric abdominal exercises to mobilize the low back. Hydrotherapy, relaxation techniques, and massage did not appear to be beneficial.5 Lorish et al did not, however, provide specific guidelines regarding prescription and implementation of exercises for patients with SPS. For example, specific strategies for adapting the therapeutic program to accommodate for the varying symptoms of SPS were not discussed.
Despite the mention of PT in various reports on the management of patients with SPS, there exists limited information to assist physical therapists in clinical decision-making. The remainder of this paper describes the PT management for a patient with SPS. The information from the examination, which was compiled through an interdisciplinary approach, is reported to provide a thorough picture of the patients condition. For example, the occupational therapist performed the examination of self-care and the neuropsychologist reported on his emotional state. However, the interventions relate exclusively to the PT plan of care. The patient signed an informed consent allowing the use of medical information and the photo for this report and received information on the institutions policies regarding the Health Insurance Portability and Accountability Act.
“BG” was a 33-year-old male, with a primary diagnosis of SPS, made 3 years prior to admission. His symptoms at diagnosis included involuntary stiffness and spasms of his trunk that gradually progressed into the legs and face. Previous diagnostic testing, including magnetic resonance imaging, muscle biopsy, and electromyography, showed no specific abnormalities and blood was negative for anti-GAD antibodies. Trials of several muscle relaxant medications and intravenous immunoglobulin did not provide any significant relief.
For several months prior to admission to rehabilitation, BG noted worsening of his symptoms. The spasms were triggered by emotional stress and physical exertion; they often lasted for hours at a time and were followed by a prolonged exacerbation of his symptoms. He was having greater difficulty getting out of bed, requiring more assistance from his wife. His facial spasms were interfering with his ability to take medications or nutrition. He was hospitalized in an acute care facility and subsequently transferred to the rehabilitation hospital for comprehensive services to improve his symptoms and functional status. At admission to rehabilitation, BG described himself as “very disabled,” being unable to dress, bathe, or walk independently, and requiring a wheelchair for locomotion. His goals were to decrease his pain and improve his ability to walk.
BG's past medical history included chronic anxiety and depression; anger management difficulties; a suicide attempt; tobacco, alcohol, and narcotic abuse (current smoker of one pack per day); hyperlipidemia; toxoplasmosis during childhood resulting in left eye blindness; and chronic bronchitis. His symptoms included occasional incontinence, headaches, shortness of breath, coughing, fatigue, weight loss, dysphagia, and chest pain. His medications at admission included Valium and dantrium (muscle relaxants); celexa and trazodone (anti-depressants); acetaminophen (a pain reliever); colace, senokot, and dulcolax suppository (for constipation); albuterol nebulizer (a bronchodilator); nicotine patch (to aid in smoking cessation), and saline nasal spray (a nasal decongestant).
BG was married with 3 stepchildren. He had 2 children from a previous marriage, residing out of state. He and his family lived in a 2-story home with the bedroom and bathroom on the first floor. He rarely needed to access the second floor. He reported that he had 12 steps at the entrance to his home with one rail. Prior to his diagnosis he worked as a laborer, however, he was currently on disability due to his condition. His insurance included Medicare and Medicaid.
A systems review of the cardiopulmonary system revealed a resting heart rate = 82 beats per minute, blood pressure = 120/72 mmHg, and respiratory rate = 16 breaths per minute. There were no abnormalities of the integumentary system. There were apparent abnormalities of the musculoskeletal (decreased ROM of distal BLE) and neuromuscular systems (decreased ambulation and balance; slowed motor function of BLE), indicating the need for further examination, as detailed below.
Tests and Measures of Function Assistive and adaptive devices
BG reported he used the following equipment: rolling walker, manual wheelchair with elevating leg rests and a cushion, tub bench, and grab bars in the shower and at the toilet. Because these devices were at the patient's home, the fit, safety, and use were not assessed.
Gait, locomotion, & balance
BG's ability to maintain the sitting and standing positions were examined at rest and during function. BG was able to maintain sitting without back support and perform basic functional skills (eg, eating and grooming) without loss of balance. To maintain balance in standing, he generally required a rolling walker and contact guarding, but he could remove his hands from the walker and hold the position for approximately 5 seconds. Because of BG's abnormalities of range of motion and posture (discussed later), more dynamic aspects of balance (eg, anticipatory and reactive postural control) were not safe; thus, a more comprehensive examination of balance was planned for later, once his foot position on the floor improved.
He independently propelled his wheelchair on level surfaces, but required minimum assistance to manage the leg rests. He was able to ambulate 20 to 30 feet on indoor level surfaces with the walker and contact guarding. He showed increased hip flexion with extreme ankle plantarflexion and inversion; additionally, he appeared to rely heavily on UE support on the walker.
The Functional Independence Measure (FIM),57 a test to determine the burden of care needed to complete activities of daily living and the Timed Up and GoTest (TUG)58–59 were administered. Both the FIM57,60–63 and the TUG59 have been shown to be reliable and valid. The TUG was chosen because the patient had reported that his gait was slow and his endurance was limited, as was evidenced by his inability to walk more than 30 feet. The TUG requires a patient to stand up from a seated position, walk 3 meters, turn around, walk back to the chair, and sit down at a comfortable speed.59 However, BG reported difficulty with walking fast, so the TUG was administered at 2 speeds (comfortable and fast). This was felt to be an objective way to measure his ability to change movement speed, while being sufficiently short to accommodate for his limited endurance. Ambulation on stairs was not assessed upon admission. The results of the TUG and FIM are noted in Table 3.
Self—care & home management
BG rolled from right ↔ left and moved from supine ↔ sitting independently. He performed pivot transfers from bed ↔ chair and to the toilet and shower (using grab bars) with supervision. He was able to move from sit ↔ stand with the walker with contact guarding (ie, less than 25% manual assistance). He was able to eat independently without assistive devices. BG required set-up for grooming and supervision for dressing and toileting. The assistance during these tasks was necessary due to concerns about his balance and safety brought about by his abnormal foot position that resulted in a small and unstable base of support. The Functional Independence Measure (FIM)57scores for self-care are also reported in Table 3.
Tests and Measures of Impairment Arousal, attention, & cognition
BG was alert and oriented; he was able to follow commands and no deficits in cognition were noted. The neuropsychologist reported that BG experienced feelings of hopelessness and helplessness, concerns about his disease and prognosis, and frustration.
BG demonstrated adequate gross and fine motor coordination; he was able to manipulate small items (eg, buttons and pens) and could perform daily activities requiring UE function (eg, eating and grooming) without difficulty. However, his BLE active movement appeared slow. To measure LE movement speed, the time to perform 5 consecutive heel to knee movements in supine (while moving as quickly and accurately as possible) was recorded (Table 3).
BLE strength was tested via manual muscle test using standard techniques, with scores from 0 to 5/5.64 Results for the left LE were: iliopsoas 5, gluteus maximus 4+, gluteus medius 4+, adductors 4+, hamstrings 4, and quadriceps 5. The right LE was: iliopsoas 4+, gluteus maximus 4, gluteus medius 4+, adductors 4+, hamstrings 4-, and quadriceps 5. Due to BG s relatively fixed foot position with reductions in ROM, testing of the tibialis anterior was considered to be invalid. Also, testing of the gastrocsoleus muscle group could not be performed using standard techniques64 due to the patient's inability to stand on one foot. The occupational therapist determined the patients UE strength to be 4 throughout.
BG reported constant pain that increased with anxiety and affected all aspects of life. Generally, his pain was mostly in the BLE, but would involve the trunk, BUE, and face at times of increased spasms. At the time of the PT examination, he reported his intensity of pain (while sitting unsupported at rest) as 5/10. At other times, his pain levels ranged from 4 to 10/10.
BG had no apparent postural deviations in sitting. In standing, he demonstrated increased hip flexion and plantarflexion with inversion of his feet and ankles (Figure 1), resulting in the contact of only his forefeet on the ground. A ruler was used to measure the distance from his heel to the floor (Table 3). Two measurements were taken on each LE and consistent results were obtained.
Range of motion
ROM was tested via observation, but when limitations were apparent, goniometric measurements were taken. BG s BUE active ROM was tested in sitting and noted to be within normal limits. His BLE active-assisted ROM, tested supine, was also within normal limits except for dorsiflexion (Table 3). The ROM of the BLE was tested in an active-assistive manner in order to provide an additional stretch that would allow for increased ROM beyond what the patient could produce independently, in order to determine his maximum ROM. Trunk ROM as assessed via observation during functional activities (eg, reaching to the floor in sitting and moving from supine ↔ sitting) was within functional limits.
As reported in the Guide to Physical Therapist Practice,6 reflex integrity can be assessed via deep tendon reflexes and resistance to passive stretch. For this case, resistance to passive stretch was preferred over deep tendon reflex testing due to its ability to determine the degree of stiffness, the primary symptom of SPS, rather than the intensity of a stretch reflex. However, a consulting neurologist did examine BG's deep tendon reflexes, stating they were “difficult to elicit.” During the initial examination, BG had increased resistance to passive movement of the all joints in the BLE. The stiffness seemed to be most severe in the extensor muscle groups and distally, in the calf muscles bilaterally, where hypertrophy was also noted. Given the fluctuations in symptom severity in patients with SPS, it is important to note that the patient was not experiencing a severe spasm at this time.
At a point later in BG's rehabilitation, he did experience a severe, long-lasting spasm that was observed. At this time, he was supine in bed and was noted to have extreme stiffness of the BLEs and BUEs, in extensor and flexor muscles respectively, in addition to spasms of the jaw muscles with an inability to open his mouth. At this time, active and passive movement of BG's limbs was impossible.
Light touch and proprioception, tested using standard methods as described by O'Sullivan and Schmitz,65 were normal.
BG's dominant symptom resulting from SPS was constant stiffness, with occasional spasms, exacerbated by anxiety. The stiffness and spasms led to pain, impairments of ankle ROM, and subsequent postural abnormalities, most notably an abnormal position of the foot on the floor and a reduced base of support. Subsequently, the patient required the use of a walker and manual assistance to prevent imbalance during transfers and gait. The stiffness also led to impairments of motor function; his BLE active movement was slow and appeared difficult. All of these factors were thought to lead to decreased speed and independence in functional mobility. Although BG was able to increase his functional movement speed (as shown by the 19.56 second difference when comparing the TUG results in the comfortable versus fast speed conditions), these results indicated extremely slow speed when compared to normal (less than 10 seconds).59 Ultimately, his pain and limited functional mobility contributed to his inability to work (especially given his employment as a laborer) and fulfill his roles within his family.
Given BG's medical condition and multisystem (ie, neuromuscular and musculoskeletal) impairments, 2 diagnostic categories from the Guide to Physical Therapist Practice were selected.6 The primary diagnosis, “Impaired Motor Function and Sensory Integrity Associated with Progressive Disorders of the CNS,” was selected due to the progressive nature of SPS and BG's abnormalities of motor function. However, this diagnosis does not include impairments of posture and ROM within the inclusion criteria. A secondary diagnosis of “Impaired Posture” was chosen based on his abnormalities of standing posture and its incorporation of a few of BG's impairments and functional limitations, as indicated by the inclusion criteria (eg, impaired joint mobility) and relevant ICD-9-CM codes (code 781: “Symptoms involving nervous and musculoskeletal systems”; 781.2 “Abnormality of gait”; and 781.92 “Abnormal posture”). Although a diagnosis of “Impaired Joint Mobility, Motor Function, Muscle Performance, and ROM Associated with Connective Tissue” was considered, it was not selected due to its emphasis on musculoskeletal pathological conditions. Additionally, there is no mention of impairments of posture in the inclusion criteria.
Despite BG's impairments upon admission to rehabilitation, he required little manual assistance with functional mobility and basic activities of daily living, provided he was using assistive devices. His cognition was intact, he had good family support, and he was motivated and interested in participating in PT. All of these factors were considered to be positive prognostic indicators.
Of concern, his medical history pointed toward a progressive disease course and it appeared that he had symptoms of both SPS (ie, the “classical” form) and stiff-limb syndrome (Table 2) 19,29–34 When not in a severe spasm, BG's symptoms were more pronounced distally, involving his ankles and feet, more consistent with stiff-limb syndrome. However, at times of severe spasm, he showed symptoms in his trunk, BUE, and facial muscles, more consistent with SPS. The literature suggests that the prognosis of these 2 syndromes differs.29–30 Patients with SPS have been found to respond well to muscle relaxant medications and often experience stabilization of their disease process after months to years of progression; those with stiff-limb syndrome typically have a poorer prognosis and response to medications, with many becoming wheelchair dependent.29,30 BG's medical history appeared more consistent with a progressive and relentless course, as he had not experienced symptom stabilization and he was wheelchair dependent upon admission. Additionally, he experienced severe spasms on occasion, which could limit his ability to participate fully in PT, and it was expected that he would have a relatively short length of stay in rehabilitation.
Although it seemed unlikely that PT would alter BG's disease course in the long-term, it was hoped that therapy would have some positive short-term and preventative effects. The PT goals focused on BG's ability to independently complete his home exercise program and perform basic mobility skills. The degree to which stretching exercises would improve BG's ankle ROM was unclear, as the literature did not provide significant insight into the potential for remediating ROM impairments. The functional mobility goals were selected because they would allow BG to return home and function independently.
The PT discharge goals included: (1) ambulate on level and unlevel surfaces independently with a device for at least 250 feet, (2) ambulate up and down one flight stairs with a device independently, (3) independent with his home exercise program, and (4) transfer from sit ↔ stand independently from a variety of surfaces (eg, bed, chair).
Consistent with the rehabilitation hospital's typical procedures, BG was scheduled for PT daily for 2, 30-minute sessions on weekdays and 1, 30-minute session on weekends. Initially, it was thought that BG would be in rehabilitation for 2 to 3 weeks, yet he requested discharge after 10 days. BG missed portions of his scheduled PT sessions on 3 occasions; thus, on average, he was seen for 45 minutes per day. The procedural interventions focused on therapeutic exercise (stretching exercises and relaxation) and functional retraining.
Because BG had a chronic and progressive condition with symptoms of stiffness and spasms, resulting in impairments of ROM and motor function, a self-stretching program was considered to be the most important part of the PT program and was prescribed with the goal of independent completion. The relative contributions of the musculosketal and neuromuscular systems in producing stiffness and spasms in patients with SPS have not been studied. However, studies conducted in patients with stroke suggest a musculoskeletal origin, with the problem being one of increased stiffness (ie, soft-tissue tightness), rather than spasticity (ie, a hyperactive stretch reflex).66,67 Given that SPS and stroke are both upper motor neuron lesions, it was thought that the stiffness and spasms that BG was experiencing might have a musculoskeletal origin, similar to that found in patients with stroke. Thus, it was hypothesized that a stretching program might reduce his stiffness, allowing for improved ROM and motor function.
The stretching program was consistent with that described by Lorish et al5 and aimed to remediate current impairments of the affected distal BLE and prevent future loss of ROM in more proximal muscles. Other methods commonly used to treat contracture, such as splinting or casting, were not used due to lack of time, as the patient's hospitalization stay was quite short. Furthermore, the stretching program was successful in improving BG's range of motion, making more costly interventions unnecessary.
To prevent loss of extensibility of the paraspinal muscles, common in patients with SPS, BG was given lumbar flexion stretches (eg, knee to chest, sitting trunk flexion, and back flexion in quadruped). A lower trunk rotation stretch was prescribed to maintain BG's ability to transfer supine ↔ sitting independently and to prevent loss of ROM of the lower trunk and hips. A stretch into hip external rotation with the LE flexed was done to assist with lower body dressing. A stretch of the hip adductors was prescribed to allow for an increased base of support in standing, which could improve BG's balance. Whereas the above exercises were largely preventative in nature, the gastrocsoleus stretches aimed remediate tightness, increasing ROM into DF, enabling him to position his entire foot on the floor. It was thought that this would improve his stability for both balance and gait, which could subsequently reduce his need for his manual assistance and a walker. It was also thought that stretching might have a positive effect on reducing stiffness, allowing decreased pain and increased ease and speed of movement, thereby improving motor function.
BG was given a written exercise program (Appendix 1) at the time of the first treatment session. Verbal and manual cues, in addition to demonstration, were used as instructional strategies. The plan was to have BG perform the exercises during his therapy sessions. Once independent, he was to perform them on his own in his room. Each stretch was performed in a slow and prolonged fashion, with a minimum of a 30-second hold. Gentle prolonged stretching has been advocated by Lorish et al.5
Due to the daily variability in BG's stiffness and activity tolerance, the exercises were categorized into groups, according to priority (high versus low) and ease of performance (easy versus difficult) (Appendix 1). The ‘easy’ exercises provided a gentle stretch or were performed in supine or sitting, positions that were simpler for BG to maintain. ‘Difficult’ exercises were done in more challenging positions (eg, quadruped) or provided a more vigorous stretch. For example, the single knee to chest stretch was considered to be a high priority exercise to reduce paraspinal muscle stiffness, a common problem in patients with SPS; it was ‘easy’ because it was performed in the supine position and provided a gentle stretch. By contrast, back flexion in quadruped was a low priority exercise because it stretched the same muscles as the single knee to chest stretch and was done in a ‘difficult’ position. The redundancy in the program provided BG with a variety of exercises to accommodate his varying symptoms and to reduce boredom. BG was instructed to do most of the high priority exercises every day and, depending on the severity of his symptoms, he could choose between those that were easier, or those that were more difficult.
On 2 occasions, when BG was experiencing periods of extreme spasms, a few techniques were tried to aide in relaxation and reduce the pain and spasms. These included rhythmic rotation68 of the BLE, done in supine on the long axis of the limb; static positioning of the BLE, in slight hip and knee flexion, over a bolster; passive stretching; breathing exercises; and gravity assisted stretching of the legs over a bolster. Vigorous stretching, necessary to gain ROM, was avoided at these times because it was feared that the force necessary to gain ROM would likely result in injury. Unfortunately, none of these techniques appeared to assist in the reduction of BG's symptoms. The physical therapist also suggested that BG be referred for evaluation for an intrathecal baclofen pump or other tone-reducing medications, as these have been useful in patients with SPS.21,24,43–50
Another component of BG's program was functional retraining. The emphasis of gait training was on increasing BG's endurance and independence when using a rolling walker. This was accomplished by progressively increasing the distance ambulated while reducing the amount of manual assistance given, according to BG's tolerance and ability. Practice of sit ↔ stand was done on a variety of surfaces (eg, bed, mat, wheelchair, and toilet). In addition, ambulation on stairs, with the use of handrails and a step-to pattern, was initiated.
In addition to the direct patient care provided, the physical therapist planned to include the patient's wife in the therapy sessions. However, opportunities were limited due to her work and family obligations. She did, however, receive information regarding the patient's progress and plans for discharge.
At BG's request, he was discharged to home after a 10-day inpatient rehabilitation stay with referrals for home PT, OT, nursing, and a home health aide. BG made consistent progress in PT, despite ongoing problems with pain and spasms that were unchanged in intensity. He did, however, report improvement in his functional ability, attitude, and quality of life, stating that it “feels good to do the things I couldn't do.”
To reflect true change in BG's status, as opposed to that associated with his varying symptoms, an attempt was made to assure that the intensity of his symptoms were consistent at the time the initial and discharge examinations were conducted. To maximize reliability of testing, the same physical therapist performed both admission and discharge tests and measures. The discharge examination showed that BG met or exceeded all PT goals, with the exception of independent stair climbing with a device. Although it was difficult to determine if the categorization of exercises according to priority and level of difficulty enhanced BG's adherence with the program, BG did achieve independence with the stretching program. This was accomplished within the final few days of his rehabilitation stay and was evidenced by his ability to independently perform his exercises and select those that were appropriate given his symptoms at that particular time.
BG achieved scores of 6 or 7, indicating modified or complete independence respectively, on nearly all mobility and activities of daily living items on the FIM (Table 3). He could ambulate with a rolling walker on level surfaces for distances up to 250 feet with supervision. He was able to ambulate very short distances (5 – 10 feet) without a device. Scores on the TUG comfortable and fast tests were reduced by 29.51 seconds and 17.29 seconds, respectively. Notably, when not in severe spasm, his foot position and ROM had improved substantially and his heels now contacted the floor when standing and walking, without a compensatory knee recurvatum. Additionally, BG was able to complete his activities of daily living, including some light housekeeping from a seated position. Table 3 reports the scores of the tests and measures at discharge.
This case report describes the PT management for a patient with stiff-person syndrome. The patient made good progress during 10 days of inpatient rehabilitation. It was felt that the primary focus on stretching exercises was appropriate given that BG had a chronic and progressive condition resulting in stiffness and loss of range of motion. BG showed dramatic improvements in ankle dorsifiexion ROM, allowing him to position his entire foot on the floor, helping to improve his posture and gait. His gait speed and distance improved and he achieved the ability to maintain standing and walk short distances without his walker, suggestive of improved balance. Importantly, BG was pleased with the progress that was made. Factors that may have positively influenced BG's outcome included the therapy provided, changes in medication (including increases in dosages of Valium and dantrium and the addition of ativan), and consistent emotional support.
BG presented several challenges to the physical therapist. Most notably, SPS was a medical diagnosis unfamiliar to the physical therapist and little is written in the literature about the benefits of PT for patients with SPS. Thus, it was difficult to develop an evidence-based prognosis and PT program. In particular, developing goals was challenging; it was not clear at admission if remediation of BG's impairments was feasible. While the Guide to Physical Therapist Practice6 and its patient/client management model were useful in conceptualizing the patients care and reporting this case, the Guide was not used extensively when selecting the test/measures and interventions. Rather, the physical therapist relied on her 18 years of clinical practice, including her experience with patients with other progressive neurological conditions. The scientific literature on SPS provided beneficial information regarding the pathological condition and expected clinical signs and symptoms, providing background information that enhanced the physical therapist's understanding of this unfamiliar condition. This information also provided a basis upon which hypotheses could be formed regarding the underlying causes of the patient's problems, emphasizing the need for a stretching program that could be adapted according to the patient's variable symptoms.
It was difficult to plan BG's PT sessions due to the variability in his symptoms on a daily basis. Also, BG's short rehabilitation stay provided little opportunity to progress his program (eg, it was not feasible to advance to a lesser device for gait training) and may also have contributed to his not achieving all goals. Additionally, a longer length of stay would have allowed more time to examine and treat BG's balance.
As indicated by BG's improvements, it does seem possible to partially remediate impairments in patients with SPS, even within a short time frame. Yet, BG's pain and spasms did not improve during his rehabilitation stay. This could be due to the condition itself, in that the spasms (which are thought to relate to the pain)1 cannot be prevented or substantially reduced in severity through stretching and relaxation techniques. The ineffectiveness could also be explained by the implementation of relaxation techniques, which were used at times when BG was in a severe spasm, rather than on a regular and preventative basis. It appears that medications may be the only treatment that can effectively reduce the spasms.5,9,21,24,43–46,48–55
Opportunities for conducting clinical trials in patients with SPS are limited by the rarity of the condition. However, it would be viable and useful to publish more case reports on patients with SPS or variants of SPS. Issues that would be helpful to explore include various treatment methods not used in this case. For example, treadmill training with or without body weight support might allow for more substantial improvements in gait speed than were seen in this case. An exploration of the effect of modality use on reducing the patient's pain, and thus anxiety and spasms, is warranted. As stated previously, examining the effectiveness of regular relaxation techniques on preventing or reducing spasms would be useful. Patients with SPS might benefit from longer rehabilitation stays, allowing for a greater breadth of treatments (eg, balance retraining as discussed previously) and progression of their programs. Finally, the impact of PT on the patient's quality of life is worth studying, since this is diminished in patients with SPS.40
When developing BG's home stretching program, the exercises were categorized according to priority and ease of performance. This format would be applicable to any patient, but particularly those who experience fluctuations in symptoms. Thus, the effectiveness of this type of exercise prescription could be applied and studied for other patient populations who experience varying symptoms, such as those with Multiple Sclerosis or Parkinson disease.
Patients with SPS are likely to be referred to physical therapy due to the impairments and subsequent functional limitations posed by the condition. Yet, little information about PT management of these patients is found in the literature. This case report described the PT management for a patient with SPS, comprised of stretching exercises, techniques to decrease stiffness and aide in relaxation, and functional retraining. At discharge, the patient showed improvements in range of motion, posture, and gait despite the presence of continued stiffness, spasms, and pain.
I would like to acknowledge and thank “BG”, who so willingly shared his rehabilitation experience with the hope of helping others with Stiff-Person Syndrome. Also, thanks to Michael Fillyaw, MS, PT and Regi Robnett, MS, OTR/L for their thoughtful feedback during the preparation of this manuscript.
1 Moersch F, Woltman HW Progressive fluctuating muscular rigidity and spasm (“Stiff-Man” Syndrome): Report of a case and some observations in 13 other cases. Proceedings of the Staff Meetings of Mayo Clinic.
2 Toro C, Jacobowitz DM, Hallet M. Stiff-man syndrome. Semin Neurol.
3 Bastin A, Gurmin V, Mediwake R, Gibbs J, Beynon J. Stiffman syndrome presenting with low back pain. Ann Rheum Dis.
4 Spada PT, Spada JB. Stiff-man syndrome: A rare disorder of the central nervous system. J Neurosci Nurs.
5 Lorish TM, Thorsteinsson G, Howard FM. Stiff-man syndrome updated. Mayo Clin Proc.
6 American Physical Therapy Association. Guide to physical therapist practice. 2nd ed. Phys Ther.
7 Helfgott SM. Stiff-man syndrome: From the bedside to the bench. Arthritis Rheum.
8 McEvoy KM. Stiff-man syndrome. Semin Neurol.
9 Meinick HM, Faber L, Morgenthaler N, et al. Antibodies against glutamic acid decarboxylase: Prevalence in neurological diseases. J Neurol Neurosurg Psychiatry.
10 Dalakas M, Li M, Fujii M, Jacobowitz D. Stiff person syndrome: Quantification, specificity, and intrathecal synthesis of GAD antibodies. Neurology.
11 Rehman HU. Stiff-man syndrome. Postgrad Med J.
12 Dalakas MC, Fujii M, Li M, McElroy B. The clinical spectrum of anti-GAD antibody-positive patients with stiff man syndrome. Neurology.
13 Meinick HM. Stiff man syndrome. CNS Drugs.
14 Hagiwara H, Enomoto-Nakatani S, Sakai K, Ugawa Y, Kusunoki S, Kanazawa I. Stiff-person syndrome associated with invasive thymoma: A case report. J Neurol Sci.
15 Bateman De, Weller RO, Kennedy P. Stiffman syndrome: A rare paraneoplastic disorder? J Neurol Neurosurg Psychiatry.
16 Piccolo G, Cosi V. Stiff-man syndrome, dysimmune disorder, and cancer. Ann Neurol.
17 Kissel JT, Elble RJ. Stiff-person syndrome: stiff opposition to a simple explanation. Neurology.
18 Levy LM, moderator. Thestiff-person syndrome: an autoimmune disorder affecting neurotransmission of γ-aminobutyric acid. Ann Intern Med.
19 Brown P, Rothwell JC, Marsden CD. The stiff leg syndrome. J Neurol Neurosurg Psychiatry.
20 Floeter MK, Vails Sole J, Toro C, Jacobowitz D, Hallett M. Physiologic studies of spinal inhibitory circuits in patients with stiff-person syndrome Neurology.
21 Mamoli B, Heiss WD, Podreka I. Electrophysiological studies on the “stiff-man syndrome.” J Neurol.
22 Sandbrink F, Syed NA, Fujii MD, Dalakas MC, Floeter MK. Motor cortex excitability in stiff-person syndrome. Brain.
23 Floeter MK. Inhibitory pathways defined by electrophysiology. In: Levy LM, moderator. The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of γ-aminobutyric acid. Ann Intern Med.
24 Tarsy D, Miyawaki EK. Stiff-man syndrome: Report of a case. Arch Intern Med.
25 Henningsen P, Meinick HM. Specific phobia is a frequent non-motor feature in stiff-man syndrome. J Neurol Neurosurg Psychiatry.
26 Henningsen P, Clement U, Kuchenhoff J, Simon F, Meinick, HM. Psychological factors in the diagnosis and pathogenesis of stiff-man syndrome. Neurology.
27 Tinsley JA, Barth EM, Black JL, Williams DE. Psychiatric consultations in stiff-man syndrome. J Clin Psychiatry.
28 Laflamme RE. Stiff-man syndrome: An education in difficulty case management. J Emerg Nurs.
29 Barker RA, Revesz T, Thorn M, Marsden CD, Brown P. Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalitis with rigidity. J Neurol Neurosurg Psychiatry.
30 Brown P, Marsden CD. The stiff man and stiff man plus syndromes. J Neurol.
31 Gürol ME, Ertas M, Hanagasi HA, Sahin HA, Gürsoy G, Emre M. Stiff leg syndrome: Case report. Mov Disord.
32 Saiz A, Graus F, Valldeoriola F, Valls-Solé J, Tolosa E. Stiff-leg syndrome: A focal form of stiff-man syndrome. Ann Neurol.
33 Alberca R, Romero M, Chaparro J. Jerking stiff-man syndrome. J Neurol Neurosurg Psychiatry.
34 Leigh PN, Rothwell JC, Traub M, Marsden CD. A patient with reflex myoclonus and muscle rigidity: “jerking stiff-man syndrome.” J Neurol Neurosurg Psychiatry.
35 Meinick HM, Thompson PD. Stiffman syndrome and related conditions. Mov Disord.
36 Layzer RB. Stiff-man syndrome - An autoimmune disease? New Eng J Med.
37 Clifton DO, Subramony SH. Stiff-man syndrome. South Med J.
38 Shaw PJ. Stiff-man syndrome and its variants. Lancet.
39 Meinck HM, Thompson PD. Stiffman syndrome and related conditions. Mov Disord.
40 Gerschlager W, Schrag A, Brown P. Quality of life in stiff-person syndrome. Mov Disord.
41 Kiriakos CR, Franco KN. Stiff-man syndrome: A case report and review of the literature. Psychosomatics.
42 Black JL, Barth EM, Williams DE, Tinsley JA. Stiff-man syndrome: Results of interviews and psychological testing. Psychosomatics.
43 Miller F, Korsvik H. Baclofen in the treatment of stiff-man syndrome. Ann Neurol.
44 Whelan JF. Baclofen in treatment of the ‘stiff-man’ syndrome. Arch Neurol.
45 Stayer C, Tronnier V, Dressnandt J, et al. Intrathecal baclofen therapy for stiff-man syndrome and progressive encephalomyelopathy with rigidity and myoclonus. Neurology.
46 Seitz RS, Blank B, Kiwitt JCW, Benecke R. Stiff-person syndrome with anti-glutamic acid decarboxylase antibodies: Complete remission of symptoms after intrathecal baclofen. J Neurol.
47 Silbert PL, Matsumoto JY, McManis PG, Stolp-Smith KA, Elliott BA, McEvoy KM. Intrathecal baclofen therapy in stiff-man syndrome: A double-blind placebo-controlled trial. Neurology.
48 Davis D, Jabbari B. Significant improvement of stiff-person syndrome after paraspinal injection of botulinum toxin A. Mov Disord.
49 Liguori R, Cordivari C, Lugaresi E, Montagna P. Botulinum toxin A improves muscle spasms and rigidity in stiff person syndrome. Mov Disord.
50 Murinson B, Rizzo M. Improvement of stiff-person syndrome with tiagabine. Neurology.
51 Vicari AM, Folli F, Pozza G, Comi GC et al. Plasmapheresis in the treatment of stiff-man syndrome. New Eng J Med.
52 Khanlou H, Eiger G. Long-termremissionofrefractorystiff-man syndrome after treatment with intravenous immunoglobulin. Mayo ClinProc.
53 Mikaeloff Y, Jambaque I, Mayer M, Ponsot G. Benefit of intravenous immunoglobulin in autoimmune stiff-person syndrome in a child. J Pediatr.
54 Gerschlager W, Brown P. Effect of treatment with intravenous immunoglobulin on quality of life in patients with stiff-person syndrome. Mov Disord.
55 Karlson EW, Sudarsky L, Ruderman E, Pierson S, Scott M, Helfgott SM. Treatment of stiff-man syndrome with intravenous immune globulin. Arthritis Rheum.
56 Dalakas MC, Fujii M, Li M, Lutfi B, Kyhos J, McElroy B. High-dose intravenous immune globulin for stiff-person syndrome. New Eng J Med.
57 Hamilton BB, Granger CV, Sherwin FS, Zielezny M, Tashman JS. A uniform national data system for medical rehabilitation. In: Furher M ed. Rehabilitation Outcomes - Analysis and Measurement.
Baltimore, MD: Paul H. Brooks Publ. Co.; 1987:137–147.
58 Mathias S, Nayak USL, Isaacs B. Balance in elderly patients: The “get-up and go” test. Arch Phys Med Rehabil.
59 Podsiadlo D, Richardson S. The timed “up & go”: A test of basic functional mobility for frail elderly persons. J Am Geriatr Society.
60 Kidd D, Stewart G, Baldry J, et al. The Functional Independence Measure: A comparative validity and reliability study. Disabil Rehabil.
61 Ottenbacher KJ, Hsu Y, Granger CV, Fiedler RC. The reliability of the Functional Independence Measure: A quantitative review. Arch Phys Med Rehabil.
62 Gosman-Hedström G, Svensson E. Parallel reliability of the Functional Independence Measure and the Barthel ADL Index. Disabil Rehabil.
63 Hsueh IP, Lin JH, Hsieh CL. Comparison of the psychometric characteristics of the functional independence measure, 5 item Barthel Index, and 10 item Barthel Index in patients with stroke. J Neurol Neurosurg Psychiatry.
64 Kendall FP, McCreary EK. Muscles, testing and function.
Ed. 3. Baltimore, MD: Williams & Wilkins; 1983.
65 O'Sullivan S, Schmitz T. Physical Rehabilitation: Assessment and Treatment.
Ed. 4. Philadelphia, PA: F.A. Davis Co.; 2001.
66 O'Dwyer JO, Ada L, Neilson PD. Spasticity and muscle contracture following stroke. Brain.
67 Sinkjaer T, Magnussen I. Passive, intrinsic and reflex-mediated stiffness in the ankle extensors of hemiparetic patients. Brain.
68 Sullivan PE, Markos PD. Clinical Decision Making in Therapeutic Exercise.
East Norwalk, CT: Appleton & Lange: 1995:63–64.
A Description of the Home Exercise Program (Adapted from Saunders Exercise Xpress, Exercise Software, Version 1, The Saunders Group, Inc., 4250 Norex Drive, Chaska, MN, 55318)
1. Sitting hamstring stretch: Sit with leg propped on a footstool; relax, letting the leg straighten; lean forward, keeping the back straight.
2. Back flexion in quadruped: Assume hands and knees position; bend knees to move buttocks toward heels.
3. Back extension (prone push-up): Lie on stomach; prop up on elbows; press trunk upward, letting hips sag toward the bed.
4. Low back side-bending in quadruped: Assume hands and knees position; let hips sag sideways toward bed.
5. Single knee to chest: Lie on back; pull one knee to chest.
6. Sitting back flexion: Sit in chair; bend forward, lowering chest toward knees.
7. Lower trunk rotation in hook-lying: Lie on back with knees bent; rotate knees to one side, toward bed.
8. Hip adductor stretch in hook-lying: Lie on back with knees bent and feet together; spread knees apart.
9. Hip external rotation stretch in supine (with LE in flexion): Lie on back holding knee and ankle on one leg; hold knee stable and pull ankle toward chest.
10. Gastrocnemius wall stretch: Stand with hands up on a wall and feet in a stride position; point toes directly toward wall and hold heel down; lean into wall.
11. Soleus stretch in sitting: Sit in a chair with both feet on the floor; using both hands, press into one knee so that the heel moves toward floor.
12. Stretch into eversion in sitting: Sit in a chair with one leg crossed over the other; grasp one foot at the heel and mid-foot; turn the foot downward.
Low priority/Easy: Exercise # 1
Low priority/Difficult: Exercises #2–4
High priority/Easy: Exercises #5–12 Cited Here...