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Limb-girdle muscular dystrophy, type 2J(LGMDR10)

MedGen UID:
324741
Concept ID:
C1837342
Disease or Syndrome
Synonyms: LGMDR10; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TTN (2q31.2)
 
Monarch Initiative: MONDO:0012127
OMIM®: 608807
Orphanet: ORPHA140922

Definition

A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. [from ORDO]

Clinical features

From HPO
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
EMG: myopathic abnormalities
MedGen UID:
867362
Concept ID:
C4021726
Pathologic Function
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
Elevated serum creatine phosphokinase
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Limb-girdle muscular dystrophy, type 2J in Orphanet.

Recent clinical studies

Etiology

Zheng W, Chen H, Deng X, Yuan L, Yang Y, Song Z, Yang Z, Wu Y, Deng H
Mol Neurobiol 2016 Oct;53(8):5097-102. Epub 2015 Sep 21 doi: 10.1007/s12035-015-9439-0. PMID: 26392295
Rouillon J, Zocevic A, Leger T, Garcia C, Camadro JM, Udd B, Wong B, Servais L, Voit T, Svinartchouk F
Neuromuscul Disord 2014 Jul;24(7):563-73. Epub 2014 Apr 13 doi: 10.1016/j.nmd.2014.03.012. PMID: 24813925
Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B
Ann Neurol 2014 Feb;75(2):230-40. Epub 2014 Feb 24 doi: 10.1002/ana.24102. PMID: 24395473

Diagnosis

Dabby R, Sadeh M, Hilton-Jones D, Plotz P, Hackman P, Vihola A, Udd B, Leshinsky-Silver E
J Neurol Sci 2015 Apr 15;351(1-2):120-123. Epub 2015 Mar 6 doi: 10.1016/j.jns.2015.03.001. PMID: 25772186
Rouillon J, Zocevic A, Leger T, Garcia C, Camadro JM, Udd B, Wong B, Servais L, Voit T, Svinartchouk F
Neuromuscul Disord 2014 Jul;24(7):563-73. Epub 2014 Apr 13 doi: 10.1016/j.nmd.2014.03.012. PMID: 24813925

Prognosis

Zheng W, Chen H, Deng X, Yuan L, Yang Y, Song Z, Yang Z, Wu Y, Deng H
Mol Neurobiol 2016 Oct;53(8):5097-102. Epub 2015 Sep 21 doi: 10.1007/s12035-015-9439-0. PMID: 26392295

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