distal myopathy 3

A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distin

A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.

Signs and symptoms

• Joint contracture of the hand
• Abnormal foot morphology
• Clumsiness
• Steppage gait
• Distal amyotrophy
• Late-onset proximal muscle weakness
• Distal muscle weakness
• Muscular dystrophy
• Split hand
• Mildly elevated creatine kinase

Also known as: MPD3; distal muscular dystrophy 3; distal myopathy type 3