Autosomal recessive distal myopathy

Autosomal recessive distal myopathy (Orphanet code 206653) is a rare inherited muscle disorder characterized by progressive weakness and wasting that predominantly affects the distal muscles — those located furthest from the center of the body, such as the muscles of the hands, forearms, lower legs, and feet. This group of conditions follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the disease-causing gene variant, one from each parent. Clinically, patients typically present with difficulty performing fine motor tasks such as gripping objects, buttoning clothes, or writing, as well as problems with walking, foot drop, and balance due to weakness in the lower leg muscles. The progression of muscle weakness can vary, but over time it may extend to involve more proximal muscle groups. Serum creatine kinase levels may be normal or mildly elevated. Muscle biopsy findings can include myopathic changes, and in some subtypes, rimmed vacuoles or other specific histopathological features may be observed. There is currently no cure or disease-specific treatment for autosomal recessive distal myopathy. Management is supportive and multidisciplinary, including physical therapy to maintain mobility and muscle function, occupational therapy for hand and fine motor difficulties, orthotic devices such as ankle-foot orthoses for foot drop, and regular monitoring by a neurologist or neuromuscular specialist. Genetic counseling is recommended for affected families to understand recurrence risks and carrier status.

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