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LGMD1
MCID: LMB073
MIFTS: 18
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Limb-Girdle Muscular Dystrophy Type 1a (LGMD1)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy Type 1a:
Name: Limb-Girdle Muscular Dystrophy Type 1a
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Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Anatomical: Muscle diseases Neuronal diseases |
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NIH Rare Diseases
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 266Disease definitionAutosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.Visit the Orphanet disease page for more resources.
MalaCards based summary : Limb-Girdle Muscular Dystrophy Type 1a, also known as lgmd1a, is related to myopathy, myofibrillar, 3 and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 1a is MYOT (Myotilin). |
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Interventional clinical trials:
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Articles related to Limb-Girdle Muscular Dystrophy Type 1a:
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Genes related to Limb-Girdle Muscular Dystrophy Type 1a (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 1a.
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