Andersen-Tawil syndrome physical examination: Difference between revisions
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=== Appearance of the Patient === | === Appearance of the Patient === | ||
* Patients with Andersen-Tawil syndrome usually appear shorter than normal. | * Patients with [[Andersen-Tawil syndrome]] usually appear shorter than normal. | ||
* | * | ||
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====HEENT==== | ====HEENT==== | ||
Findings may include: | Findings may include: | ||
* Hypoplastic mandible or small mandible | *[[Hypoplastic]] [[mandible]] or small mandible | ||
* [[Micrognathia]] | * [[Micrognathia]] | ||
*Low-set ears | *[[Low-set ears]] | ||
*Broad nose may be seen | *Broad [[nose]] may be seen | ||
*Dental abnormalities: Lax jaw and poor dentition. | *[[Dental]] abnormalities: Lax jaw and poor dentition. | ||
* [[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]] | ||
[[File:Dental abnormalities.jpg|alt=Dental abnormalities|center|thumb|Dental abnormalities in patient with Andersen-Tawil syndrome. Case courtesy by Rui Fan et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5038206/|title=Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> ]]<br /> | [[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|640x640px]]<br /> | ||
[[File:Dental abnormalities.jpg|alt=Dental abnormalities|center|thumb|Dental abnormalities in patient with Andersen-Tawil syndrome. Case courtesy by Rui Fan et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5038206/|title=Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> |602x602px]]<br /> | |||
=== '''Heart''' === | === '''Heart''' === | ||
* Palpitations | *[[Palpitations]] | ||
*Syncope is usally seen in the first or second decade of the life of the patient | *[[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 | *[[Andersen-Tawil syndrome]] patients have a unique cardiac finding on [[The electrocardiogram|ECG]] | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
* Periodic paralysis:<ref name="LevittRose1972">{{cite journal|last1=Levitt|first1=Lawrence P.|last2=Rose|first2=Leslie I.|last3=Dawson|first3=David M.|title=Hypokalemic Periodic Paralysis with Arrhythmia|journal=New England Journal of Medicine|volume=286|issue=5|year=1972|pages=253–254|issn=0028-4793|doi=10.1056/NEJM197202032860507}}</ref><ref name="pmid29125635">{{cite journal| author=Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA | display-authors=etal| title=Review of the Diagnosis and Treatment of Periodic Paralysis. | journal=Muscle Nerve | year= 2018 | volume= 57 | issue= 4 | pages= 522-530 | pmid=29125635 | doi=10.1002/mus.26009 | pmc=5867231 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29125635 }}</ref><ref name="pmid23097604">{{cite journal| author=Cavel-Greant D, Lehmann-Horn F, Jurkat-Rott K| title=The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients. | journal=Acta Myol | year= 2012 | volume= 31 | issue= 2 | pages= 126-33 | pmid=23097604 | doi= | pmc=3476862 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23097604 }}</ref><ref name="pmid22607270">{{cite journal| author=Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G | display-authors=etal| title=Measuring quality of life impairment in skeletal muscle channelopathies. | journal=Eur J Neurol | year= 2012 | volume= 19 | issue= 11 | pages= 1470-6 | pmid=22607270 | doi=10.1111/j.1468-1331.2012.03751.x | pmc=3492909 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22607270 }}</ref><ref name="pmid22286118">{{cite journal| author=Modoni A, Bianchi ML, Vitulano N, Pagliarani S, Perna F, Sanna T | display-authors=etal| title=Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2. | journal=Cardiology | year= 2011 | volume= 120 | issue= 4 | pages= 200-3 | pmid=22286118 | doi=10.1159/000335529 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22286118 }}</ref> | * Periodic paralysis:<ref name="LevittRose1972">{{cite journal|last1=Levitt|first1=Lawrence P.|last2=Rose|first2=Leslie I.|last3=Dawson|first3=David M.|title=Hypokalemic Periodic Paralysis with Arrhythmia|journal=New England Journal of Medicine|volume=286|issue=5|year=1972|pages=253–254|issn=0028-4793|doi=10.1056/NEJM197202032860507}}</ref><ref name="pmid29125635">{{cite journal| author=Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA | display-authors=etal| title=Review of the Diagnosis and Treatment of Periodic Paralysis. | journal=Muscle Nerve | year= 2018 | volume= 57 | issue= 4 | pages= 522-530 | pmid=29125635 | doi=10.1002/mus.26009 | pmc=5867231 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29125635 }}</ref><ref name="pmid23097604">{{cite journal| author=Cavel-Greant D, Lehmann-Horn F, Jurkat-Rott K| title=The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients. | journal=Acta Myol | year= 2012 | volume= 31 | issue= 2 | pages= 126-33 | pmid=23097604 | doi= | pmc=3476862 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23097604 }}</ref><ref name="pmid22607270">{{cite journal| author=Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G | display-authors=etal| title=Measuring quality of life impairment in skeletal muscle channelopathies. | journal=Eur J Neurol | year= 2012 | volume= 19 | issue= 11 | pages= 1470-6 | pmid=22607270 | doi=10.1111/j.1468-1331.2012.03751.x | pmc=3492909 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22607270 }}</ref><ref name="pmid22286118">{{cite journal| author=Modoni A, Bianchi ML, Vitulano N, Pagliarani S, Perna F, Sanna T | display-authors=etal| title=Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2. | journal=Cardiology | year= 2011 | volume= 120 | issue= 4 | pages= 200-3 | pmid=22286118 | doi=10.1159/000335529 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22286118 }}</ref> | ||
** The most important clinical manifestation of Andersen-Tawil syndrome patients is periodic paralysis | ** The most important clinical manifestation of [[Andersen-Tawil syndrome]] patients is [[periodic paralysis]] | ||
** Periodic paralysis are episodic paralysis with flaccid muscle weakness | ** Periodic paralysis are episodic [[paralysis]] with [[flaccid]] [[muscle weakness]] | ||
**These periodic paralysis impairs quality of life of the patients with Andersen-Tawil syndrome | **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. | **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]]:<ref name="pmid4106724">{{cite journal| author=Andersen ED, Krasilnikoff PA, Overvad H| title=Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? | journal=Acta Paediatr Scand | year= 1971 | volume= 60 | issue= 5 | pages= 559-64 | pmid=4106724 | doi=10.1111/j.1651-2227.1971.tb06990.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4106724 }}</ref> | |||
** 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 [[Neurology|neurological]] or [[Neurocognitive deficit|neurocognitive]] defects.<ref name="pmid24383070">{{cite journal| author=Nguyen HL, Pieper GH, Wilders R| title=Andersen-Tawil syndrome: clinical and molecular aspects. | journal=Int J Cardiol | year= 2013 | volume= 170 | issue= 1 | pages= 1-16 | pmid=24383070 | doi=10.1016/j.ijcard.2013.10.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24383070 }}</ref> | ||
===Extremities=== | ===Extremities=== | ||
*[[Clinodactyly]]:<ref name="pmid8080508">{{cite journal| author=Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C | display-authors=etal| title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. | journal=Ann Neurol | year= 1994 | volume= 35 | issue= 3 | pages= 326-30 | pmid=8080508 | doi=10.1002/ana.410350313 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8080508 }}</ref> | *[[Clinodactyly]]:<ref name="pmid8080508">{{cite journal| author=Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C | display-authors=etal| title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. | journal=Ann Neurol | year= 1994 | volume= 35 | issue= 3 | pages= 326-30 | pmid=8080508 | doi=10.1002/ana.410350313 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8080508 }}</ref> | ||
** Fifth-digit clinodactyly | ** Fifth-digit [[clinodactyly]] | ||
** Second and third toe syndactyly | ** Second and third toe [[syndactyly]] | ||
[[File:Clinodactyly.jpg|alt=clinodactyly|center|thumb|699x699px|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<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569570/|title=Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]] | [[File:Clinodactyly.jpg|alt=clinodactyly|center|thumb|699x699px|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<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569570/|title=Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]] | ||
Latest revision as of 02:06, 18 February 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
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
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]
Extremities
- Clinodactyly:[10]
- Fifth-digit clinodactyly
- Second and third toe syndactyly
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".