autosomal dominant distal hereditary motor neuronopathy 13

An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in hete

An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.

Signs and symptoms

• Decreased compound muscle action potential amplitude
• Babinski sign
• Chaddock reflex
• Gait disturbance
• Distal lower limb muscle weakness
• Pes cavus
• Thenar muscle atrophy
• Frequent falls
• Distal lower limb amyotrophy