Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods

    August 2021 in “ Canadian journal of neurological sciences ”
    Mitesh Chandarana, Ajith Cherian, Divya Kajaria, Syam Krishnan, Mary Glenda, Udit Saraf
    From the encyclopedia
    Metformin →

    diabetes drug with anti-inflammatory, immunomodulatory, and insulin-sensitizing properties

    Minoxidil →

    An essential vasodilator with some anti-androgenic effects

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    Woodhouse-Sakati syndrome (WSS) is a rare genetic disorder with symptoms like hypogonadism, alopecia, diabetes, deafness, mental retardation, and extrapyramidal symptoms. This report discusses a South Indian family with two siblings who had childhood-onset writer's cramp, a rare symptom of WSS. The siblings, a 25-year-old woman and her 19-year-old brother, showed action dystonia, alopecia, and hypogonadism, with MRI revealing brain iron deposition and a small pituitary gland. Genetic testing identified a novel homozygous nonsense mutation in the DCAF17 gene. Treatment included metformin, insulin, minoxidil, and hormone therapy, underscoring the need for recognizing WSS's varied symptoms and the importance of genetic testing for diagnosis.
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