Dystrophia Myotonica (Myotonic Muscular Dystrophy)
Clinical features of Dystrophia Myotonica can be remembered as
' Dy. S.T.R.O.P.H.I.A '
- Distal muscles weakness and wasting, Dysmotility of GI muscles and biliary tree, Dementia
- Swan neck appearance of neck(wasting of sternomastoid to the point of disappearance; producing a thin neck, ie., "swan neck")
- Testicular atrophy, erectile dysfunction
- Reflexes depressed or absent, Reduced life span
- Obviously enlarged breast and baldness
- Ptosis, Pulmonary infections are common, Pseudodrop attack due to quadriceps weakness
- Hatchet face due to wasting of temporalis, masseters and sternomastoid, Heart diseases
- Intrinsic muscles of hand wasting, IQ low
- Autosomal dominant inheritance
- Myotonia
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Did you know?
 The diagnosis of Dystrophia myotonica is usually unmistakable on clinicla grounds alone |
| Many patients with the disease have low IQ and dementia |
| Onset at any age is possible, but most patients develop disease between 20-30 years of age |
| The disease appears earlier in successive generations, but infact this may merely reflect earlier recognition |
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