Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C
MDDGC15

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cardiomyopathy circulatory 100 % 31266720 2024-05-09
Limb-girdle weakness multi 100 % 31266720 2024-05-09
Elevated creatine kinase (CK) levels circulatory 100 % 31266720 2024-05-09
Muscle atrophy skeletal 100 % 31266720 2024-05-09
Muscle weakness skeletal 100 % 31266720 2024-05-09
Hypokinetic left ventricle circulatory 100 % 31266720 2024-05-09
Reduced left ventricular ejection fraction circulatory 100 % 31266720 2024-05-09
Alpha-dystroglycan deficiency skeletal 100 % 31266720 2024-05-09
Fiber-size variation skeletal 100 % 31266720 2024-05-09
Scapular winging multi 100 % 31266720 2024-05-09
non-walking multi 100 % 31266720 2024-05-09
Myopathy skeletal 50 % 31266720 2024-05-09
Seizures nervous 50 % 31266720 2024-05-09
Stroke circulatory 50 % 31266720 2024-05-09
Pyramidal signs nervous 50 % 31266720 2024-05-09
Syncope multi 50 % 31266720 2024-05-09
Dyspnoea respiratory 50 % 31266720 2024-05-09



List of references:


Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
J Svahn, P Laforêt, C Vial, N Streichenberger, N Romero, C Bouchet-Séraphin, A Bruneel, T Dupré, N Seta, R Menassa, L Michel-Calemard, T Stojkovic,



Neuromuscular disorders : NMD - Jul 2019