Alpha-B crystallin-related late-onset myopathy

What is Alpha-B crystallin-related late-onset myopathy?

A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopthay changes.

Other condition names

  • Alpha-B crystallin-related late-onset distal myopathy
  • Late-onset distal crystallinopathy

Inheritance type

Autosomal dominant


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Adult
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