Andersen Tawil Syndrome Support

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Andersen-Tawil Syndrome - NORD (National Organization for ...

    https://rarediseases.org/rare-diseases/andersen-tawil-syndrome/
    Andersen-Tawil syndrome can also be classified as a form of periodic paralysis, a group of rare neuromuscular disorders characterized by episodes of weakness or paralysis. The terms Andersen-Tawil syndrome type 1 or type 2 are also used in the medical literature.

Andersen-Tawil syndrome - Genetics Home Reference - NIH

    https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome
    Oct 29, 2019 · Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger.

Andersen-Tawil syndrome Genetic and Rare Diseases ...

    https://rarediseases.info.nih.gov/diseases/9453/andersen-tawil-syndrome
    50 rows · Aug 18, 2015 · Andersen-Tawil syndrome is a type of long QT syndrome and is also …

Andersen Tawil syndrome (Concept Id: C1563715)

    https://www.ncbi.nlm.nih.gov/medgen/327586
    Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac ...

Andersen-Tawil Syndrome

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1501096/
    Jan 01, 2006 · Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the a subunit of the potassium channel Kir2.1, were identified in patients with ATS.

Variable penetrance of Andersen-Tawil syndrome in a family ...

    https://ng.neurology.org/content/4/6/e284
    Dec 01, 2018 · The missense mutation of p.Thr192Ile found in our patients was previously reported in a single Taiwanese family with Andersen-Tawil syndrome. 4 The proband was a 35-year-old woman with typical clinical triad of Andersen-Tawil syndrome and fixed extremity and truncal weakness. In addition, she was also noted to have pyramidal tract signs and major depression.Author: Reem Deeb, Aravindhan Veerapandiyan, Rabi Tawil, Simona Treidler

Andersen-Tawil Syndrome FAQ Periodic Paralysis Intl.

    http://hkpp.org/patient/ATS-FAQ
    What is Andersen-Tawil Syndrome? Andersen-Tawil Syndrome (ATS) is a rare inherited disorder which causes episodes of paralysis or weakness. It has been diagnosed in only a few hundred families in the world. It was only recognized as a separate disorder in 1971. ATS causes attacks of muscle weakness and irregular heart rhythms.

Periodic Paralyses (Hyperkalemic, Hypokalemic, Andersen ...

    https://www.mda.org/disease/periodic-paralyses
    Andersen-Tawil syndrome What is Andersen-Tawil syndrome? Andersen-Tawil syndrome is one of a group of diseases, called inherited myopathies, that causes problems with the tone and contraction of skeletal muscles. It is considered more dangerous than the other periodic paralyses because of its potential to induce serious abnormalities in heart ...

Disease InfoSearch - Andersen Tawil Syndrome - Definition ...

    https://www.diseaseinfosearch.org/disease/431
    Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis.It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs.



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