autosomal recessive distal hereditary motor neuronopathy 5

An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozy

An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.

Signs and symptoms

• Gait disturbance
• Areflexia
• Distal muscle weakness
• Foot dorsiflexor weakness
• Distal lower limb amyotrophy
• Spinal muscular atrophy
• Pes cavus
• Dysphonia
• Distal sensory impairment

Also known as: DSMA5; autosomal recessive distal spinal muscular atrophy type 5; distal spinal muscular atrophy type 5; young adult-onset dHMN; young adult-onset distal hereditary motor neuropathy