Case ReviewsLife-Long Steroid Responsive Familial Myopathy With Docking Protein 7 MutationOh, Shin J. MD*; King, Peter H. MD*; Schindler, Alice MS, CGC† Author Information *Department of Neurology, University of Alabama at Birmingham, Birmingham, AL; and †Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD. Reprints: Shin J. Oh, MD, Department of Neurology, University of Alabama at Birmingham, 200 Sparks Center, 1720 2nd Avenue South, Birmingham, AL 35294-0017 (e-mail: [email protected]). The authors report no conflicts of interest. This study was approved by the University of Alabama at Birmingham IRB-300006625. Journal of Clinical Neuromuscular Disease: December 2022 - Volume 24 - Issue 2 - p 80-84 doi: 10.1097/CND.0000000000000398 Buy Metrics Abstract Docking protein 7 (DOK7) congenital myasthenic syndrome (CMS) is characterized by limb-girdle weakness and lack of fluctuating fatigability simulating many familial myopathies. Albuterol is the first line of therapy in view of consistent improvement. Two brothers with progressive predominant biceps weakness for 1–3 years responded to prednisone treatment for 40–50 years. Various studies including muscle biopsy and many laboratory studies were unsuccessful for the definite diagnosis. Gene study, 40 years after the initial evaluation, confirmed the diagnosis of DOK7 CMS. These are the first reported cases of DOK7 CMS associated with a sustained benefit from corticosteroids. Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.