autosomal dominant distal hereditary motor neuronopathy 7

An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous muta

An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3.

Signs and symptoms

• Increased jitter at single fiber EMG
• Hyporeflexia
• Gait disturbance
• Pes cavus
• Distal amyotrophy
• Distal muscle weakness
• Peripheral neuropathy
• Vocal cord paralysis
• Vocal cord paresis
• Tremor

Also known as: DHMN7A; DHMNVPy; HMN VIIA; HMN7A; Harper-Young myopath