Spinal Muscular Atrophy with Respiratory Distress 1 / Charcot-Marie-Tooth Disease, Type 2 (IGHMBP2)

Pathogenic variants in the gene IGHMBP2 cause two autosomal recessive neurological disorders called spinal muscular atrophy with respiratory distress 1 and Charcot-Marie-Tooth disease type 2S.

  • Charcot-Marie-Tooth disease type 2S is a non-demyelinating peripheral neuropathy disorder. Onset can be observed from infancy to adolescence. It is characterized by distal muscle weakness and atrophy and mild sensory loss. It also includes reduced pain sensitivity, excessive sweating, loss of bladder and bowel control, and an irregular heartbeat.
  • Spinal muscular atrophy with respiratory distress 1 is a more severe neurological disorder. Onset of symptoms typically occurs in infancy. It is characterized by muscle weakness and severe respiratory distress and failure. Infants with this disorder have a low birth weight, weak cry and suck, noisy breathing, and growth delays. Typically infants experience difficulty breathing due to weakness of the diaphragm muscle. Other symptoms include progressive muscle weakness and atrophy in lower limbs, reduced pain insensitivity, excessive sweating, loss of bladder and bowel control, and irregular heartbeat. Life expectancy varies depending on the severity of symptoms.

No clear genotype-phenotype correlation has been established for these disorders.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):