Learn About Miyoshi Myopathy

What is the definition of Miyoshi Myopathy?
Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs. The first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. Over a period of years, the weakness and atrophy typically spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength. It is caused by variations in the DYSF gene. Inheritance is autosomal recessive. Diagnosis may be confirmed by blood tests results showing an elevation of the creatine kinase (CK) and genetic testing. Miyoshi myopathy is part of the group of diseases known as "Dysferlinopathies", which are caused by different genetic changes in the DYSF gene.
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What are the alternative names for Miyoshi Myopathy?
  • Miyoshi myopathy
  • MM
  • Miyoshi distal myopathy
  • Muscular dystrophy, distal, late onset, autosomal recessive
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What are the latest Miyoshi Myopathy Clinical Trials?
Evaluation of Clinical, Immunological, Morphological, Molecular and Genetic Characteristics of Patients With Limb-girdle Muscular Dystrophy Type R2 (Type 2B) in the Russian Federation

Summary: To evaluate specific characteristics of phenotype, immune status, molecular and genetic as well as morphological characteristics of adult patients with limb-girdle muscular dystrophy R2 in various regions of the Russian Federation.

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International Clinical Outcome Study for Dysferlinopathy

Summary: The Clinical Outcome Study for Dysferlinopathy is being performed in centres in Europe (UK- Newcastle; Spain- Barcelona, Sevilla; San Sebastian;Denmark, Copenhagen, Italy- Padova; France- Paris,), USA (Charlotte, NC; Columbus, OH; St.Louis, MO, Stanford CA, Irvine CA and Columbia NY), Chile (Santiago) Japan (Tokyo) and South Korea (Pusan). Oversight is provided by Newcastle upon Tyne Hospitals Tru...

Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Miyoshi Myopathy?
Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.
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