Juvenile to adult onset myotonic dystrophy (Q101380): Difference between revisions
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A distrofia miotônica (DM) de início juvenil a adulto é um distúrbio muscular hereditário. Na forma juvenil, os sintomas aparecem entre o nascimento e a adolescência, enquanto na forma adulta o início ocorre em indivíduos com idade entre 20 e 40 anos. As manifestações clínicas típicas incluem fraqueza facial, ptose das pálpebras, perda de massa muscular nos antebraços e panturrilhas, dificuldade em relaxar a preensão e defeitos de condução cardíaca. O DM também causa constipação, catarata, degeneração retinal, baixo QI, calvície frontal precoce, atrofia testicular, diabetes e apnéia do sono. Deficiências graves geralmente não aparecem até cerca de 20 anos após o início dos sintomas, e a maioria dos pacientes mantém a capacidade de andar. | |||
| description / en | description / en | ||
Juvenile to adult onset myotonic dystrophy (DM) is an inherited muscular disorder. In the juvenile form symptoms appear between birth and adolescence, whereas in the adult form the onset is in individuals aged 20-40. Typical clinical manifestations include facial weakness, eyelids ptosis, muscle wasting in the forearms and calves, difficulty relaxing the grasp, and cardiac conduction defects. DM also causes constipation, cataracts, retinal degeneration, low IQ, early frontal balding, testicular atrophy, diabetes, and sleep apnoea. Severe disabilities do not usually set in until about 20 years after symptoms begin, and most patients maintain the ability to walk. | |||
Revision as of 18:10, 16 August 2026
Juvenile to adult onset myotonic dystrophy (DM) is an inherited muscular disorder. In the juvenile form symptoms appear between birth and adolescence, whereas in the adult form the onset is in individuals aged 20-40. Typical clinical manifestations include facial weakness, eyelids ptosis, muscle wasting in the forearms and calves, difficulty relaxing the grasp, and cardiac conduction defects. DM also causes constipation, cataracts, retinal degeneration, low IQ, early frontal balding, testicular atrophy, diabetes, and sleep apnoea. Severe disabilities do not usually set in until about 20 years after symptoms begin, and most patients maintain the ability to walk.
| Language | Label | Description | Also known as |
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| default for all languages | ID_844053282 |
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| English | Juvenile to adult onset myotonic dystrophy |
Juvenile to adult onset myotonic dystrophy (DM) is an inherited muscular disorder. In the juvenile form symptoms appear between birth and adolescence, whereas in the adult form the onset is in individuals aged 20-40. Typical clinical manifestations include facial weakness, eyelids ptosis, muscle wasting in the forearms and calves, difficulty relaxing the grasp, and cardiac conduction defects. DM also causes constipation, cataracts, retinal degeneration, low IQ, early frontal balding, testicular atrophy, diabetes, and sleep apnoea. Severe disabilities do not usually set in until about 20 years after symptoms begin, and most patients maintain the ability to walk. |
