Miyoshi myopathy

Common Name(s)

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 mutations in the DYSF gene and is inherited in an autosomal recessive manner. Management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Miyoshi myopathy" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Miyoshi myopathy" returned 7 free, full-text research articles on human participants. First 3 results:

Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro.
 

Author(s): Akihito Tanaka, Knut Woltjen, Katsuya Miyake, Akitsu Hotta, Makoto Ikeya, Takuya Yamamoto, Tokiko Nishino, Emi Shoji, Atsuko Sehara-Fujisawa, Yasuko Manabe, Nobuharu Fujii, Kazunori Hanaoka, Takumi Era, Satoshi Yamashita, Ken-Ichi Isobe, En Kimura, Hidetoshi Sakurai

Journal:

 

The establishment of human induced pluripotent stem cells (hiPSCs) has enabled the production of in vitro, patient-specific cell models of human disease. In vitro recreation of disease pathology from patient-derived hiPSCs depends on efficient differentiation protocols producing relevant ...

Last Updated: 29 Apr 2013

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Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance.
 

Author(s): E Ryoung Choi, Sung-Ji Park, Yeon Hyeon Choe, Dong Ryeol Ryu, Sung-A Chang, Jin-Oh Choi, Sang-Chol Lee, Seung Woo Park, Byoung Joon Kim, Duk-Kyung Kim, Jae K Oh

Journal:

 

Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly expressed in cardiac muscle, the effect ...

Last Updated: 18 Jun 2010

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Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.
 

Author(s): Hyun-Jung Cho, Duck Hyun Sung, Eun-Jin Kim, Chul Ho Yoon, Chang-Seok Ki, Jong-Won Kim

Journal: J. Korean Med. Sci.. 2006 Aug;21(4):724-7.

 

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically ...

Last Updated: 7 Aug 2006

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Reviews from the PubMed Database

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The terms "Miyoshi myopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
 

Status: Recruiting

Condition Summary: Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; PLS; Motor Neuron Disease; Lou Gehrigs Disease; Familial Disease; Amyotrophic Lateral Sclerosis, Sporadic

 

Last Updated: 16 Dec 2013

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