Hereditary spastic paraplegia type 22

Also known as: Allan–Herndon–Dudley syndrome; SPG22

X-linked MCT8 deficiency with hypotonia and spastic paraplegia.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Endocrinology
Sex & age distribution: Male: affected, nearly all; Female: carriers mostly unaffected; Children: yes, infancy
Gene(s) involved: SLC16A2

Etiology & mechanism

Loss of thyroid hormone transporter.

Gene(s) involved (1)

SLC16A2

Symptoms & signs (4)

abnormal thyroid hormone levelshypotoniasevere cognitive impairmentspastic quadriplegia

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