Distal Myopathy

Common Name(s)

Distal Myopathy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Distal Myopathy" for support, advocacy or research.

The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

Last Updated: 16 Mar 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Distal Myopathy" for support, advocacy or research.

The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

http://www.ryr1.org

Last Updated: 16 Mar 2015

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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 "Distal Myopathy" returned 47 free, full-text research articles on human participants. First 3 results:

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.
 

Author(s): Guja Astrea, Antonio Petrucci, Denise Cassandrini, Marco Savarese, Rosanna Trovato, Ludovico Lispi, Anna Rubegni, Manlio Giacanelli, Roberto Massa, Vincenzo Nigro, Filippo M Santorelli

Journal:

 

Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genetic and imaging investigations in three relatives affected by autosomal dominant ...

Last Updated: 23 Mar 2016

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Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.
 

Author(s): M Carolina Gallego-Iradi, Alexis M Clare, Hilda H Brown, Christopher Janus, Jada Lewis, David R Borchelt

Journal:

 

Mutations in Matrin 3 [MATR3], an RNA- and DNA-binding protein normally localized to the nucleus, have been linked to amyotrophic lateral sclerosis (ALS) and distal myopathies. In the present study, we have used transient transfection of cultured cell lines to examine the impact of ...

Last Updated: 4 Nov 2015

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Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
 

Author(s): Alessandra Ruggieri, Francesco Brancati, Simona Zanotti, Lorenzo Maggi, Maria Barbara Pasanisi, Simona Saredi, Chiara Terracciano, Carlo Antozzi, Maria Rosaria D Apice, Federica Sangiuolo, Giuseppe Novelli, Christian R Marshall, Stephen W Scherer, Lucia Morandi, Luca Federici, Roberto Massa, Marina Mora, Berge A Minassian

Journal:

 

Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, ...

Last Updated: 24 Jul 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Distal Myopathy" returned 1 free, full-text review articles on human participants. First 3 results:

Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?
 

Author(s): M C V Malicdan, S Noguchi, I Nishino

Journal: Acta Myol. 2007 Dec;26(3):171-5.

 

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes ...

Last Updated: 23 Jul 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy; Distal Myopathy With Rimmed Vacuoles; Distal Myopathy, Nonaka Type; GNE Myopathy; Quadriceps Sparing Myopathy; Inclusion Body Myopathy 2

 

Last Updated: 13 Jun 2016

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GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy; GNE Myopathy; Nonaka Disease; Quadriceps Sparing Myopathy (QSM); Distal Myopathy With Rimmed Vacuoles (DMRV)

 

Last Updated: 26 Jan 2016

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A Natural History Study of Patients With GNE Myopathy
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy

 

Last Updated: 11 May 2016

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