Recessive limb-girdle muscular dystrophy (Q41384): Difference between revisions
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Distrofias musculares de cinturas autossômicas recessivas (DMC2) são um grupo de doenças geneticamente heterogêneas que são tipicamente caracterizadas por fraqueza progressiva e atrofia dos músculos do ombro e da cintura pélvica. Muitas das mais de 20 condições diferentes apresentam características clínicas sobrepostas com outras formas de distrofia muscular, miopatias congênitas, miofibrilares ou mesmo distais e também com doenças musculares adquiridas. Embora individualmente extremamente raros, todos os tipos de DMC2 juntos formam um importante grupo de diagnóstico diferencial entre as doenças neuromusculares. | |||
| description / en | description / en | ||
Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases. | |||
Revision as of 07:32, 13 August 2026
Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8C70.41 |
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| English | Recessive limb-girdle muscular dystrophy |
Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases. |
