autosomal recessive distal hereditary motor neuronopathy 6

An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11.

Signs and symptoms

• Peripheral axonal neuropathy
• Arthrogryposis-like hand anomaly
• Hypotonia
• Distal muscle weakness
• Fiber type grouping
• Wrist drop
• Craniofacial dystonia
• Plantar flexion contracture
• Axonal degeneration
• Foot dorsiflexor weakness