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Distal myopathy 2

Distal myopathy 2 is a condition characterised by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.

Descrição

Distal myopathy 2 is a condition characterised by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.

Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult.

Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).

Padrões de herança

The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.

Other names

Distal myopathy with vocal cord and pharyngeal signs

Distal myopathy with vocal cord weakness

Matrin 3 distal myopathy

MPD2

Myopathia distalis type 2

VCPDM

Vocal cord and pharyngeal weakness with distal myopathy

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Leitura adicional e referências

Histórico do artigo

As informações nesta página são escritas e revisadas por clínicos qualificados.
  • 18 de ago de 2020 | Última versão
  • 1 Nov 2011 | Publicado originalmente

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