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Neuromuscular & Muscular
 
Neuromuscular & Muscular
 

Myotonic Disorders

 
 
 
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Pathogenesis

  • Causes of Myotonia

  • Myotonic Dystrophy

  • Dystrophia myotonia
  • Myotonia congenita
  • Non-Dystrophic Myotonia

  • Paramyotonia congenita
  • Acid maltase deficiency

Manifestations

  • Manifestations of Myotonic Dystrophy

  • Myotonia
  • Cognitive impairment
  • Cataracts
  • Hearing impairment
  • Endocrine - diabetes, hypogonadism, secondary hyperparathyroidism
  • Cardiovascular - arrhythmia, cardiomyopathy, sudden cardiac death
  • Respiratory - obstructive sleep apnoea
  • Gastrointestinal - transaminase elevation, constipation / diarrhoea
  • Hypogammaglobulinaemia

Diagnosis

  • Clinical Signs

  • Myopathic facies - temporalis wasting, mandibular wasting, frontal baldness
  • Flaccid dysarthria - nasal speech, breathiness, monotony, impaired articulation
  • Warm-up phenomenon - grip myotonia, repeated eye closure
  • Percussion myotonia - muscle contraction with percussion of the thenar eminence
  • Wasting of the forearm and small muscles of the hand
  • Distal muscle weakness
  • Hyporeflexia
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