Preferred Label : Alpha B crystalline myopathy;
ICD-11 definition : 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.;
ICD-11 synonym : Fatal infantile hypertonic myofibrillar myopathy;
Origin ID : 320805265;
Currated CISMeF NLP mapping
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.
