autosomal recessive distal hereditary motor neuronopathy 3

info · Genetic

An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.

Signs and symptoms

Interosseus muscle atrophy
EMG: neuropathic changes
Distal lower limb muscle weakness
Distal amyotrophy
Reduced vital capacity
Diaphragmatic weakness
Hyperlordosis
Spinal muscular atrophy

Also known as: autosomal recessive distal spinal muscular atrophy type 3; dHMN3; dHMN3 and dHMN4; dHMN4; dSMA3