autosomal recessive distal hereditary motor neuronopathy 4

An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozyg

An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.

Signs and symptoms

• Abnormal lower motor neuron morphology
• Scapuloperoneal amyotrophy
• EMG: neuropathic changes
• Talipes equinovarus
• Scoliosis
• Gait disturbance
• Distal amyotrophy
• Difficulty climbing stairs
• Areflexia
• Distal muscle weakness

Also known as: DSMA4; autosomal recessive distal spinal muscular atrophy type 4; autosomal recessive lower motor neuron disease with childhood onset; distal spinal muscular atrophy type 4