scapuloperoneal spinal muscular atrophy

A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 ge

A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.

Signs and symptoms

• Scapuloperoneal amyotrophy
• Facial palsy
• Muscle fiber splitting
• Stridor
• Scapular winging
• Motor delay
• Gowers sign
• Scapular muscle atrophy
• Progressive distal muscle weakness
• Hoarse voice

Medications that may treat it

nusinersen onasemnogene abeparvovec risdiplam

Also known as: SPSMA; neurogenic scapuloperoneal amyotrophy, New England type; scapuloperoneal neuronopathy