spinal muscular atrophy with lower extremity predominant 2A

A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extr

A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.

Signs and symptoms

• Lower limb muscle weakness
• Proximal lower limb muscle weakness
• Waddling gait
• Decreased Achilles reflex
• Scapular winging
• Decreased patellar reflex
• Hyperlordosis
• Lower limb amyotrophy
• Postexertional symptom exacerbation
• Motor delay

Also known as: spinal muscular atrophy with lower extremity predominance 2A