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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 50 free, full-text research articles on human participants. First 3 results:

RYR1 causing distal myopathy.
 

Author(s): Ruple S Laughlin, Zhiyv Niu, Eric Wieben, Margherita Milone

Journal: Mol Genet Genomic Med. 2017 11;5(6):800-804.

 

Congenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but ...

Last Updated: 31 Dec 1969

Go To URL
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
 

Author(s): Stojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović, Volker Straub

Journal: Eur. J. Hum. Genet.. 2017 05;25(5):572-581.

 

Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the ...

Last Updated: 31 Dec 1969

Go To URL
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.
 

Author(s): Jennifer Gass, Patrick Blackburn, Jessica Jackson, Kimberly Harris, Duygu Selcen, Elliot Dimberg, Paldeep Atwal

Journal: J Clin Neuromuscul Dis. 2017 Mar;18(3):152-156.

 

Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 ...

Last Updated: 31 Dec 1969

Go To URL

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 2 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: 31 Dec 1969

Go To URL
Distal myopathy.
 

Author(s): E Satoyoshi

Journal: Tohoku J. Exp. Med.. 1990 Aug;161 Suppl():1-19.

 

Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. There were many reports in the past concerning the varieties of the distal myopathy. Distal myopathy is a rather rare disorder and it may be difficult to diagnose these cases. ...

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

A Natural History Study of Patients With GNE Myopathy
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy

 

Last Updated: 18 May 2018

Go to URL
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; Muscular Dystrophy; Miyoshi Myopathy

 

Last Updated: 30 Aug 2017

Go to URL