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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Miyoshi myopathy


Other Names for this Disease

  • Miyoshi distal myopathy
  • MM
  • Muscular dystrophy, distal, late onset, autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for Miyoshi myopathy?

Yes, genetic testing for this condition is available. GeneTests lists the names of laboratories that are performing genetic testing for Miyoshi myopathy. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 4/5/2011

How is Miyoshi myopathy diagnosed?

Characteristics that may make the diagnosis of Miyoshi myopathy likely are:
  • Mid- to late-childhood or early-adult onset of signs and symptoms
  • Early and predominant involvement of the calf muscles
  • Slow progression
  • Elevation of serum creatine kinase (CK) concentration, often 10-100 times normal
  • Primarily myogenic pattern on EMG (electromyography)
  • Biopsy evidence of a chronic, active myopathy without rimmed vacuoles[1]
Diagnosis typically depends on a combination of muscle biopsy and genetic testing. Muscle biopsy almost always indicates a primary dysferlinopathy (a disorder involving dysferlin, the protein absent or decreased in individuals with Miyoshi myopathy and limb-girdle muscular dystrophy type 2B). Molecular genetic testing of DYSF, the only gene associated with dysferlinopathy, is clinically available.[1]
Last updated: 6/6/2011

References
  1. Masashi Aoki. Dysferlinopathy. GeneReviews. April 22, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1303/. Accessed 4/4/2011.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • The Jain Foundation sponsors genetic testing to confirm the diagnosis of dysferlinopathy.
Other Names for this Disease
  • Miyoshi distal myopathy
  • MM
  • Muscular dystrophy, distal, late onset, autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.