autosomal recessive distal hereditary motor neuronopathy 9

An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on ch

An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12.

Signs and symptoms

• Distal upper limb muscle weakness
• Gait disturbance
• Pes cavus
• Distal lower limb muscle weakness
• Increased variability in muscle fiber diameter
• Lower limb amyotrophy
• Gowers sign
• Fasciculations
• Babinski sign
• Hoffmann sign