56 30歲李先生長得瘦高，前額禿頭，臉頰瘦長，嘴巴總是開著，頸部往前伸出像鵝頸一樣，且患有白內障。兩手無力已有多年，且逐漸加重。李先生的四肢末端皆有肌肉萎縮，肌腱反射下降，但叩診槌敲到肌肉時，肌肉會收縮約10秒鐘，李先生需要手扶膝蓋才能夠從椅子上站起來。李先生最可能患有：
myotonic dystrophy Klinefelter syndrome
Duchenne muscular dystrophy hereditary motor-sensory neuropathy, type I
A
Myotonic dystrophy (dystrophia myotonica, DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles (muscular dystrophy), cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age
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