title: Distal Myopathies: Case Studies.
abstract: About 15% of myopathies present with distal weakness. Lack of sensory deficit, and preservation of sensory responses and deep tendon reflexes, favors a myopathic cause for distal weakness. Electromyogram confirms this diagnosis. Profuse spontaneous discharges are common in inflammatory, metabolic, and myofibrillar myopathy (MFM). If the clinical picture indicates a specific disease such as facioscapulohumeral muscular dystrophy (FSHD), genetic testing provides the quickest diagnosis. Otherwise, muscle biopsy can distinguish specific features. The common causes of myopathic distal weakness are FSHD, myotonic dystrophy, and inclusion body myositis. Other causes include MFM, distal muscular dystrophies, metabolic myopathies, and congenital myopathies.
authors.affiliation: Department of Medicine, Nerve and Muscle Center of Texas, Baylor College of Medicine, 6624 Fannin # 1670, Houston, TX 77030, USA. Electronic address: shaibani@bcm.edu.
authors.forename: Aziz
authors.initials: A
authors.lastname: Shaibani
mesh_terms: D000328:Adult; D000368:Aged; D049310:Distal Myopathies / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged
keywords: Distal; Myofibrillar; Myopathy; Weakness