autosomal recessive distal hereditary motor neuronopathy 1

A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound he

A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.

Signs and symptoms

• Diaphragmatic eventration
• Neonatal hypotonia
• Distal amyotrophy
• Camptodactyly of finger
• Urinary incontinence
• Distal muscle weakness
• Limb muscle weakness
• Failure to thrive
• Axonal degeneration
• Hyperhidrosis

Also known as: DSMA1; SIANRF; SMARD1; autosomal recessive distal spinal muscular atrophy 1; autosomal recessive spinal muscular atrophy with respiratory distress