myotonia atrophica

a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant

全身性の脱力と顔面、足、手、首を侵す筋萎縮を特徴とする重度の筋ジストロフィー；言語障害や手の障害が生じ、腕、肩、脚、腰へと広がる；発症時期は出生時から中年期までのいつでもあり得、進行は緩やかである；常染色体優性遺伝する