Neurology >
Myotonic Dystrophy

“An inherited disorder characterised by progressive muscle wasting and weakness”

Risk Factors
  • Adulthood
  • Family history
Myotonic Dystrophy Type IMyotonic Dystrophy Type II
Severity of symptomsSevereMild
AetiologyMutation in DMPK geneMutation in CNBP gene
Clinical PresentationLegs, hands, face and neck affectedNeck, shoulders, elbows and hips affected
Pathophysiology
  1. A segment of DNA abnormally repeated
  2. Unstable region in the gene formed
  3. Unusually long mRNA produced from abnormal segment
  4. mRNA interferes with the production of other proteins
  5. Affects muscle cells
Clinical Presentation
  • Myotonia
  • Slurred speech
  • Temporary jaw locking
  • Cataracts
Investigations
  • Physical exam
  • Electromyography (EMG)
  • Muscle biopsy
  • Blood test to detect muscle enzymes
  • Genetic test to detect a mutation
Management
  • Regular physical activity
  • Walking aids
  • Pain management
Complications
  • Type 2 diabetes
  • Cardiac conduction defects
  • Frontal balding in men
  • Infertility in men

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