BAG3-related myofibrillar myopathy

What it is

A rare myofibrillar myopathy characterized by childhood-/adolescent-onset progressive myopathy with proximal and/or distal muscle weakness that commonly progress to involve axial muscles due to BAG3 mutations. Patients present with toe-walking, gait disturbance, fatigue, rigid spine, scoliosis and joint contractures (particularly of the knees, ankles, and hips). Respiratory insufficiency and cardiomyopathy are frequently present. All patients exhibit a sensorimotor axonal/demyelinating (often with giant axons) peripheral neuropathy contributing to distal weakness and sensory loss. Disease typically progress rapidly in childhood-/adolescent-onset patient, however few adult-onset patients reported to have milder, slower progression with limited cardiac or respiratory involvement.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Adolescent, Childhood

Inheritance

Autosomal dominant

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references