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GTR Home > Conditions/Phenotypes > Early-onset myopathy with fatal cardiomyopathy

Early-onset myopathy with fatal cardiomyopathy

Synonyms
CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Salih Myopathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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 ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Peter Hackman
Marco Savarese
Virginie Carmignac
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Available tests

73 tests are in the database for this condition.

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Clinical tests (73 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1G, CMH9, CMPD4, CMYP5, EOMFC, HMERF, LGMD2J, LGMDR10, MYLK5, SALMY, TMD, TTN
    Summary: titin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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