Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Disease data Klasyfikacja Disease Synonimy Alpha-B crystallin-related late-onset distal myopathy Dystlana krystalinopatia o późnym początku Late-onset distal crystallinopathy Kod ORPHA 399058 Kod OMIM 608810 Kod ICD10 G71.0 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl