Dominant limb-girdle muscular dystrophy (Q41383): Difference between revisions
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As distrofias musculares de cinturas (DMC) são um grupo de doenças genéticas caracterizadas predominantemente por atrofia e fraqueza progressiva dos músculos da cintura proximal do membro, incluindo os músculos pélvicos, do ombro, do braço e da coxa. Os sintomas iniciais geralmente variam desde a primeira infância até o final da idade adulta, e a velocidade de progressão e distribuição de fraqueza e debilidade também variam consideravelmente entre os indivíduos e subtipos genéticos. Existem atualmente 8 DMC autossômicos dominantes (DMC1), ligados a mutações genéticas específicas. As DMC dominantes são frequentemente alélicas com outros transtornos clínicos, incluindo as miopatias miofibrilares ou cardiomiopatia dilatada. | |||
| description / en | description / en | ||
The Limb Girdle Muscular Dystrophies (LGMD) are a group of genetic disorders characterised predominantly by progressive wasting and weakness of proximal limb girdle muscles, including pelvic, shoulder, upper arm and thigh muscles. The onset symptoms usually vary from early childhood to late adulthood, and the progression rate and distribution of weakness and wasting also varies considerably among individuals and genetic subtypes. There are currently 8 autosomal dominant LGMDs (LGMD1), linked to specific gene mutations. Dominant LGMDs are often allelic with other clinical disorders, including the myofibrillar myopathies or dilated cardiomyopathy. | |||
Revision as of 07:32, 13 August 2026
The Limb Girdle Muscular Dystrophies (LGMD) are a group of genetic disorders characterised predominantly by progressive wasting and weakness of proximal limb girdle muscles, including pelvic, shoulder, upper arm and thigh muscles. The onset symptoms usually vary from early childhood to late adulthood, and the progression rate and distribution of weakness and wasting also varies considerably among individuals and genetic subtypes. There are currently 8 autosomal dominant LGMDs (LGMD1), linked to specific gene mutations. Dominant LGMDs are often allelic with other clinical disorders, including the myofibrillar myopathies or dilated cardiomyopathy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8C70.40 |
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| English | Dominant limb-girdle muscular dystrophy |
The Limb Girdle Muscular Dystrophies (LGMD) are a group of genetic disorders characterised predominantly by progressive wasting and weakness of proximal limb girdle muscles, including pelvic, shoulder, upper arm and thigh muscles. The onset symptoms usually vary from early childhood to late adulthood, and the progression rate and distribution of weakness and wasting also varies considerably among individuals and genetic subtypes. There are currently 8 autosomal dominant LGMDs (LGMD1), linked to specific gene mutations. Dominant LGMDs are often allelic with other clinical disorders, including the myofibrillar myopathies or dilated cardiomyopathy. |
