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Choreoathetosis and congenital hypothyroidism

MedGen UID:
369695
•Concept ID:
C1970270
•
Disease or Syndrome
Synonym: Choreoathetosis And Congenital Hypothyroidism

Professional guidelines

PubMed

Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.
Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C; Chorea & Huntington Disease Group ERN-RND, Ortigoza-Escobar JD
Eur J Paediatr Neurol 2024 Jul;51:110-117. Epub 2024 Jun 19 doi: 10.1016/j.ejpn.2024.06.007. PMID: 38917695

Recent clinical studies

Prognosis

High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).
LeMoine BD, Browne LP, Liptzin DR, Deterding RR, Galambos C, Weinman JP
Pediatr Radiol 2019 Jun;49(7):869-875. Epub 2019 Mar 30 doi: 10.1007/s00247-019-04388-3. PMID: 30927038

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