Catalog

Alpha B crystalline myopathy

No MMS code

Link to WHO Definition

Alpha B crystalline myopathy – http://id.who.int/icd/entity/320805265

Alpha B crystalline myopathy or fatal infantile hypertonic myofibrillar myopathy is caused by homozygous mutation in the CRYAB gene. It is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years.