Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked disease
with severe neuropsychiatric abnormalities including psychomotor retardation,
lack of speech development, dystonia, and severe intellectual deficits. William
Allan, Florence C. Dudley, and C. Nash Herndon first described a syndrome which
results from the disturbed formation of two thyroid hormone transporters, MCT8
and Oatp1c1. Nearly 320 individuals of around 130 families have been described
so far with MCT-8 deficiency. The first individual treatment attempt with LT4
and Propylthiouracil was introduced in 2008; the development of therapies for
Allan-Herndon-Dudley syndrome has gained momentum in recent years. Treatment
options range from symptomatic interventions, including botulinum toxin
injections, levodopa/carbidopa, assistive devices, functional therapies,
rehabilitation to replacement therapies (LT3, LT4, DIPTA, TRIAC, TETRAC), and
gene therapy. Diagnosis, treatment and cure of Allan-Herndon-Dudley syndrome in
childhood remains challenging for the future. Due to the low number of cases,
conducting large-scale studies is challenging, and therefore, it is difficult
to find clear guidelines for this extremely rare disease in childhood.
Author(s)
Details
Stefan
Bittmann
Department of Pediatrics, Ped Mind Institute, Hindenburgring 4,
D-48599 Gronau, Germany and Shangluo Vocational and Technical College,
Shangluo, 726000, Shaanxi, China.
Please see the book here:- https://doi.org/10.9734/bpi/nhstc/v2/5685
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