Tag Archives: Syndrome

FDA Approves Ruzurgi (amifampridine) for Children with Lambert-Eaton Myasthenic Syndrome

FDA Approves Ruzurgi (amifampridine) for Children with Lambert-Eaton Myasthenic Syndrome Print this page May 06, 2019 — The U.S. Food and Drug Administration today approved Ruzurgi (amifampridine) tablets for the treatment of Lambert-Eaton myasthenic syndrome (LEMS) in patients 6 years to less than 17 years of age. This is the first FDA approval of a… Read More: FDA Approves Ruzurgi (amifampridine) for Children with Lambert-Eaton Myasthenic Syndrome »

Genetics Home Reference: Wiedemann-Rautenstrauch syndrome

Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9. Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A,… Read More: Genetics Home Reference: Wiedemann-Rautenstrauch syndrome »

Genetics Home Reference: 15q11-q13 duplication syndrome

Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G. Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome. Am J Med Genet A. 2016 Oct;170(10):2531-9. doi: 10.1002/ajmg.a.37844. Epub 2016 Aug 11. Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C,… Read More: Genetics Home Reference: 15q11-q13 duplication syndrome »

Researchers identify genes associated with polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) affects one in 10 women of reproductive age. It is characterized by irregular menstrual cycles, facial hair or acne and an increased number of eggs arrested in development. Many women also suffer from weight gain, Type 2 diabetes and depression. While first characterized by the medical community in the mid-1930s, few… Read More: Researchers identify genes associated with polycystic ovary syndrome »