Miyoshi distal muscular dystrophy: Case reports of two sisters
Date Issued | Start Page | End Page |
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2024-04-16 | 414 | 415 |
Introduction Miyoshi myopathy (MM) (ORPHA:45448) is a rare hereditary autosomal recessive disorder and dysferlinopathy, linked to biallelic variants in the DYSF gene, causing dysferlin deficiency, crucial for muscle repair. It is marked by progressive distal muscle weakness and atrophy, usually beginning to show between ages 15 and 30 [1]. Case presentation We report two sisters with MM. The older sister, 41 years old, began experiencing leg weakness and myalgia at age 22 and currently has difficulty climbing stairs, walking on toes, and opening bottles. Her ENMG shows myopathic patterns and acute denervation of the legs distal muscles. Creatine kinase (CK) was tested 5689 IU/l 5 years ago and 1879 IU/l 2 years ago. Muscle biopsy showed atrophic myopathic signs.