Multi-minicore disease (Q90786): Difference between revisions
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A doença multi-minicore (DMM) é uma doença neuromuscular hereditária caracterizada por múltiplos núcleos na biópsia muscular e características clínicas de uma miopatia congênita com importante variabilidade clínica que corresponde à heterogeneidade genética: de rigidez espinhal, escoliose precoce e insuficiência respiratória, a uma gama mais ampla de características clínicas que incluem oftalmoplegia externa, fraqueza distal e atrofia ou comprometimento predominante da cintura do quadril semelhante a doença central core (DCC). | |||
| description / en | description / en | ||
Multi-minicore disease (MmD) is a hereditary neuromuscular disorder characterised by multiple cores on muscle biopsy and clinical features of a congenital myopathy with important clinical variability that corresponds to genetic heterogeneity: from spinal rigidity, early scoliosis and respiratory impairment, to a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD). | |||
Revision as of 17:46, 15 August 2026
Multi-minicore disease (MmD) is a hereditary neuromuscular disorder characterised by multiple cores on muscle biopsy and clinical features of a congenital myopathy with important clinical variability that corresponds to genetic heterogeneity: from spinal rigidity, early scoliosis and respiratory impairment, to a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_880281117 |
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| English | Multi-minicore disease |
Multi-minicore disease (MmD) is a hereditary neuromuscular disorder characterised by multiple cores on muscle biopsy and clinical features of a congenital myopathy with important clinical variability that corresponds to genetic heterogeneity: from spinal rigidity, early scoliosis and respiratory impairment, to a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD). |
