A hereditary autosomal recessive form of infantile spinal muscular atrophy characterized by severe respiratory distress resulting from diaphragmatic paralysis resulting in respiratory failure between 6 weeks and 6 months, DIAPHRAGMATIC EVENTRATION shown on chest x-ray or PREMATURE BIRTH, and predominant involvement of the upper limbs and distal muscles. Mutations in the IGHMBP2 gene have been identified. OMIM: 604320
Also Known As:
Autosomal Recessive Distal Spinal Muscular Atrophy 1; Dhmn6; Diaphragmatic Spinal Muscular Atrophy; Distal Hereditary Motor Neuronopathy Type Vi; Distal Spinal Muscular Atrophy Type 1; Dsma1; Hmn6; Hmnvi; Neuronopathy, Distal Hereditary Motor, Type VI; Neuronopathy, Severe Infantile Axonal, With Respiratory Failure; Severe Infantile Axonal Neuropathy With Respiratory Failure; Sianrf; Smard1; Spinal Muscular Atrophy with Respiratory Distress; Spinal Muscular Atrophy with Respiratory Distress Type 1; Spinal Muscular Atrophy, Diaphragmatic; Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1