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GTR Home > Conditions/Phenotypes > MYH7-related skeletal myopathy

MYH7-related skeletal myopathy

Synonyms
Laing distal myopathy; Laing early-onset distal myopathy; MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Laing Distal Myopathy
Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal.
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:
Phillipa Lamont
Nigel G Laing
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Available tests

78 tests are in the database for this condition.

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Clinical tests (78 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1S, CMH1, CMYP7A, CMYP7B, MPD1, MYHCB, SPMD, SPMM, MYH7
    Summary: myosin heavy chain 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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