GTR Home > Conditions/Phenotypes > Myopathy, early-onset, with fatal cardiomyopathy

Summary

Excerpted from the GeneReview: Salih Myopathy
Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between age 20 months and four years. In the first decade of life, global motor performances are stable or tend to improve. Moderate joint and neck contractures and spinal rigidity may start in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction starts between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances.

Available tests

45 tests are in the database for this condition.

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  • Also known as: CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, SALMY, TMD, TTN
    Summary: titin

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