Miyoshi Myopathy
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Miyoshi Myopathy Overview

Definition
Alternate Names
Top Doctors
Clinical Trials
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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.

What are the alternative names for Miyoshi Myopathy?

Miyoshi myopathy
MM
Miyoshi distal myopathy
Muscular dystrophy, distal, late onset, autosomal recessive

Who are the top Miyoshi Myopathy Local Doctors?

Elite in Miyoshi Myopathy

Laura E. Rufibach

Elite in Miyoshi Myopathy

Laura E. Rufibach

Referral may be required

Central Parkway,

Newcastle Upon Tyne, ENG, GB

Laura Rufibach practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Rufibach is rated as an Elite expert by MediFind in the treatment of Miyoshi Myopathy. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Miyoshi Myopathy, Dysferlinopathy, Limb-Girdle Muscular Dystrophy, and Cramp-Fasciculation Syndrome.

Elite in Miyoshi Myopathy

Martin Krahn

Elite in Miyoshi Myopathy

Martin Krahn

Referral may be required

Centre De Référence De Pathologie Neuromusculaire Paris Est,

Martin Krahn practices practicing medicine in Estonia. Mr. Krahn is rated as an Elite expert by MediFind in the treatment of Miyoshi Myopathy. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Miyoshi Myopathy, Limb-Girdle Muscular Dystrophy, Dysferlinopathy, and Cramp-Fasciculation Syndrome.

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Elite in Miyoshi Myopathy

Ursula R. Moore

Elite in Miyoshi Myopathy

Ursula R. Moore

Referral may be required

Central Parkway,

Newcastle Upon Tyne, ENG, GB

Ursula Moore practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Moore is rated as an Elite expert by MediFind in the treatment of Miyoshi Myopathy. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Dysferlinopathy, Miyoshi Myopathy, Limb-Girdle Muscular Dystrophy, and Cramp-Fasciculation Syndrome.

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What are the latest Miyoshi Myopathy Clinical Trials?

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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?

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: January 13, 2026