autosomal dominant distal hereditary motor neuronopathy 15

An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG

An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.

Signs and symptoms

• Decreased Achilles reflex
• Distal lower limb muscle weakness
• Distal lower limb amyotrophy
• EMG: neuropathic changes
• Absent Achilles reflex
• Foot dorsiflexor weakness
• Decreased compound muscle action potential amplitude
• Elevated circulating creatine kinase activity
• Muscle fiber atrophy
• Fiber type grouping