Andersen-Tawil syndrome physical examination: Difference between revisions

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* [[Micrognathia]]
* [[Micrognathia]]
*Low-set ears
*Low-set ears
[[File:Facial dysmorphia.gif|alt=Facial dysmorphia|thumb|Facial dysmorphia. The mouth is small, the ears have low implantation and the nose ridge is broad. Case courtesy by Stéphane Burtey et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421201/|title=Hypokalaemia and dysmorphia, is there a link?|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]Patients with Andersen-Tawil syndrome usually appear shorter than normal.
[[File:Facial dysmorphia.gif|alt=Facial dysmorphia|thumb|Facial dysmorphia. The mouth is small(purple arrow), the ears have low implantation(yellow arrow) and the nose ridge is broad(blue arrow). Case courtesy by Stéphane Burtey et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421201/|title=Hypokalaemia and dysmorphia, is there a link?|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>|center]]Patients with Andersen-Tawil syndrome usually appear shorter than normal.


* [[Hypertelorism]] (widely spaced eyes) may be noted on physical examination of the patients with Andersen-Tawil syndrome
* [[Hypertelorism]] (widely spaced eyes) may be noted on physical examination of the patients with Andersen-Tawil syndrome

Revision as of 16:12, 7 February 2020

Andersen-Tawil syndrome Microchapters

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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 shorter than 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

HEENT

Findings may include:

  • Hypoplastic mandible or small mandible
  • Micrognathia
  • Low-set ears
Facial dysmorphia
Facial dysmorphia. The mouth is small(purple arrow), the ears have low implantation(yellow arrow) and the nose ridge is broad(blue arrow). Case courtesy by Stéphane Burtey et al[1]

Patients with Andersen-Tawil syndrome usually appear shorter than normal.

  • Hypertelorism (widely spaced eyes) may be noted on physical examination of the patients with Andersen-Tawil syndrome

Heart

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

Nose

  • Broad nose may be seen

Ears

  • Low set ears may be present

Neuromuscular

  • Periodic paralysis:[2][3][4][5]
    • The most important clinical manifestation of Andersen-Tawil syndrome patients is periodic paralysis
    • Periodic paralysis are episodic paralysis with flaccid muscle weakness
    • These periodic paralysis impairs quality of life of the patients with Andersen-Tawil syndrome
    • Triggers often may be due to change in behavior or diet, and also due to the fact that alterations in serum potassium levels.
  • Muscle weakness:[6]
    • 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. "Hypokalaemia and dysmorphia, is there a link?".
  2. 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.
  3. Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA; et al. (2018). "Review of the Diagnosis and Treatment of Periodic Paralysis". Muscle Nerve. 57 (4): 522–530. doi:10.1002/mus.26009. PMC 5867231. PMID 29125635.
  4. Cavel-Greant D, Lehmann-Horn F, Jurkat-Rott K (2012). "The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients". Acta Myol. 31 (2): 126–33. PMC 3476862. PMID 23097604.
  5. Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; et al. (2012). "Measuring quality of life impairment in skeletal muscle channelopathies". Eur J Neurol. 19 (11): 1470–6. doi:10.1111/j.1468-1331.2012.03751.x. PMC 3492909. PMID 22607270.
  6. 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.
  7. 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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