Andersen-Tawil syndrome physical examination

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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

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

HEENT

Findings may include:

Hypoplastic mandible or small mandible
Micrognathia
Low-set ears
Broad nose may be seen
Dental abnormalities: Lax jaw and poor dentition.
Hypertelorism (widely spaced eyes) may be noted on physical examination of the patients with Andersen-Tawil syndrome

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]

Dental abnormalities in patient with Andersen-Tawil syndrome. Case courtesy by Rui Fan et al^[2]

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

Neuromuscular

Periodic paralysis:^[3]^[4]^[5]^[6]^[7]
- 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:^[8]
- 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

Patients with Andersen-Tawil syndrome (ATS) may experience some neurological or neurocognitive defects.^[9]

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

Clinodactyly:^[10]
- Fifth-digit clinodactyly
- Second and third toe syndactyly

Characteristic deformity of hand. A: patient's right fifth finger showing clinodactyly (arrow). B: patient mother's left fifth finger also showing clinodactyly (arrow). Case courtesy by Jung Yoon Pyo et al^[11]

References

↑ "Hypokalaemia and dysmorphia, is there a link?".
↑ "Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report".
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ Modoni A, Bianchi ML, Vitulano N, Pagliarani S, Perna F, Sanna T; et al. (2011). "Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2". Cardiology. 120 (4): 200–3. doi:10.1159/000335529. PMID 22286118.
↑ 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.
↑ Nguyen HL, Pieper GH, Wilders R (2013). "Andersen-Tawil syndrome: clinical and molecular aspects". Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.
↑ 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.
↑ "Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome".

Template:WikiDoc Sources

[1] "Hypokalaemia and dysmorphia, is there a link?".

[2] "Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report".

[LevittRose1972-3] 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.

[pmid29125635-4] 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.

[pmid23097604-5] 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.

[pmid22607270-6] 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.

[pmid22286118-7] Modoni A, Bianchi ML, Vitulano N, Pagliarani S, Perna F, Sanna T; et al. (2011). "Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2". Cardiology. 120 (4): 200–3. doi:10.1159/000335529. PMID 22286118.

[pmid4106724-8] 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.

[pmid24383070-9] Nguyen HL, Pieper GH, Wilders R (2013). "Andersen-Tawil syndrome: clinical and molecular aspects". Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.

[pmid8080508-10] 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.

[11] "Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome".

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