juvenile spinal muscular atrophy

A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 ge

A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.

Signs and symptoms

• EMG: chronic denervation signs
• Pelvic girdle amyotrophy
• Lower limb muscle weakness
• Pelvic girdle muscle weakness
• Proximal muscle weakness
• Shoulder girdle muscle weakness
• Absent Achilles reflex
• Proximal lower limb amyotrophy
• Absent patellar reflexes
• Hyporeflexia

Also known as: Kugelberg-Welander disease; SMA3; Spinal Muscular Atrophy Type 3; Type III Spinal Muscular Atrophy