Symptomatic form of Becker muscular dystrophy in female carriers (Q93404): Difference between revisions
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A distrofia muscular de Becker (DMB) em mulheres portadoras é caracterizada por graus variáveis de fraqueza muscular devido à miopatia esquelética progressiva, às vezes associada a cardiomiopatia dilatada ou dilatação do ventrículo esquerdo. A prevalência é desconhecida: apenas uma pequena porcentagem de mulheres portadoras foi identificada para manifestar essas doenças (19% das mulheres portadoras de famílias com DMB). Portadoras sintomáticas do sexo feminino geralmente aparecem mais tarde na vida. Mulheres com características clínicas de DMB são geralmente portadoras de rearranjos do cromossomo X, apresentam inativação anormal não aleatória do X ou têm síndrome de Turner (ausência completa ou parcial de um cromossomo X). O prognóstico para portadoras sintomáticas do sexo feminino é variável, mas o curso da doença tende a ser mais brando em mulheres do que em homens e a progressão é lenta. | |||
| description / en | description / en | ||
Becker muscular dystrophy (BMD) in females carriers are characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Prevalence is unknown: Only a small percentage of female carriers have been reported to manifest these diseases (19% of female carriers from families with BMD). Symptomatic female carriers usually present later in life. Females with clinical features of BMD are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome (complete or partial absence of an X chromosome). The prognosis for symptomatic female carriers is variable, but the disease course tends to be milder in females than in males and progression is slow. | |||
Revision as of 08:30, 16 August 2026
Becker muscular dystrophy (BMD) in females carriers are characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Prevalence is unknown: Only a small percentage of female carriers have been reported to manifest these diseases (19% of female carriers from families with BMD). Symptomatic female carriers usually present later in life. Females with clinical features of BMD are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome (complete or partial absence of an X chromosome). The prognosis for symptomatic female carriers is variable, but the disease course tends to be milder in females than in males and progression is slow.
| Language | Label | Description | Also known as |
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| default for all languages | ID_853926582 |
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| English | Symptomatic form of Becker muscular dystrophy in female carriers |
Becker muscular dystrophy (BMD) in females carriers are characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Prevalence is unknown: Only a small percentage of female carriers have been reported to manifest these diseases (19% of female carriers from families with BMD). Symptomatic female carriers usually present later in life. Females with clinical features of BMD are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome (complete or partial absence of an X chromosome). The prognosis for symptomatic female carriers is variable, but the disease course tends to be milder in females than in males and progression is slow. |
