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Extra-muscular characteristics of myotonic dystrophy (DM), types I and II

Extra-muscular characteristics of myotonic dystrophy (DM), types I and II
Type of DM Cataracts Cardiac abnormalities Cognitive impairment; personality disturbance Endocrine disturbance Gastrointestinal disorder
DM I (Steinert disease) Very common; almost universal late in course[1]

Conduction disturbances well recognized and common late in course[1]

Progressive cardiomyopathy also described
Intellectual disability is common with congenital DM I; mild to moderate cognitive and personality defects in adult form

Glucose intolerance: well recognized and common late in course[1]

Hypogonadism: common and almost universal late in course[1]
Irritable bowel symptoms; dysphagia; gall stones
DM II (Proximal myotonic myopathy) Common (78% in subjects >50 years)[2]

Conduction disturbances less problematic than DM I (19% when considered across age spectrum [21 to >50 years][2])

Progressive cardiomyopathy also described
Mild cognitive impairment may be seen

Glucose intolerance: common, seen in 75%[2]

Hypogonadism: seen in 29%[2]
Yes, but not as pronounced as in DM I; dysphagia common but relatively mild
References:
  1. Harper PS. Myotonic Dystrophy, 2nd ed, WB Saunders, London 1989.
  2. Day JW, Ricker K, Jacobsen BS, et al. Myotonic dystrophy type 2. Molecular, diagnostic and clinical spectrum. Neurology 2003; 60:657.
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