Andersen-Tawil syndrome physical examination

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Andersen-Tawil syndrome Microchapters

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Pathophysiology

Differentiating Andersen-Tawil syndrome from other Diseases

Epidemiology and Demographics

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Natural History, Complications and Prognosis

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Physical Examination

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Charmaine Patel, M.D. [2]; Raviteja Guddeti, M.B.B.S. [3]

Overview

Patients with Andersen-Tawil syndrome usually appear normal. Physical examination of patients with Andersen-Tawil syndrome is usually remarkable for hypoplastic mandible, micrognathia, broad nose , low set ears and clinodactyly.

Physical Examination

Appearance of the Patient

  • Patients with Andersen-Tawil syndrome usually appear normal

HEENT

Findings may include:

  • Hypoplastic mandible or small mandible
  • Micrognathia
  • Low-set ears
  • Hypertelorism (widely spaced eyes) may be noted on physical examination of the patients with Andersen-Tawil syndrome

Heart

  • Palpitations.
  • Syncope usally seen in first or second decade of the life of the patient
  • Andersen-Tawil syndrome patients have a unique cardiac findings on ECG

Nose

  • Broad nose may be seen

Ears

  • Low set ears may be present

Neuromuscular

  • Periodic paralysis:[1]
    • The most important clinical manifestation of Andersen-Tawil syndrome patients is periodic paralysis
    • Periodic paralysis are episodic paralysis with flaccid muscle weakness
  • Muscle weakness:[2]
    • In patients with Andersen-Tawil syndrome the muscle weakness occurs intermittently or spontaneously
    • Muscle weakness in patients with Andersen-Tawil syndrome may be occured due to prolonged rest or rest following exertion
  • Neuromuscular examination of patients with [disease name] is usually normal.

OR

  • Patient is usually oriented to persons, place, and time
  • Altered mental status
  • Glasgow coma scale is ___ / 15
  • Clonus may be present
  • Hyperreflexia / hyporeflexia / areflexia
  • Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
  • Muscle rigidity
  • Proximal/distal muscle weakness unilaterally/bilaterally
  • ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
  • Unilateral/bilateral upper/lower extremity weakness

Extremities

References

  1. Levitt, Lawrence P.; Rose, Leslie I.; Dawson, David M. (1972). "Hypokalemic Periodic Paralysis with Arrhythmia". New England Journal of Medicine. 286 (5): 253–254. doi:10.1056/NEJM197202032860507. ISSN 0028-4793.
  2. Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?". Acta Paediatr Scand. 60 (5): 559–64. doi:10.1111/j.1651-2227.1971.tb06990.x. PMID 4106724.
  3. Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.


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