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ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
300523
OMIM = Online Mendelian Inheritance of Men
59
Monocarboxylate transporter 8
Xq13.2
G31.8
rare
X-linked
mutation in the MCT8 gene (SLC16A2)
Laboratory findings    Thyroid-stimulating hormone (TSH) normal/inc (serum)
    Thyroxine (T4) dec (serum)
    Triiodothyronine (T3) inc (serum)
Symptoms    ataxia
    contractures, joints
    defect of walking, running, rising or climbing
    developmental delay
    dysarthria
    eye movements, abnormal
    feeding difficulties, poor feeding
    hyperreflexia
    hypotonia
    irritability
    leukodystrophy
    mental retardation
    microcephaly (<2 SD for age)
    muscle atrophy
    nystagmus
    onset, adolescent
    onset, childhood
    onset, infancy
    onset, neonatal
    psychomotor retardation
    scoliosis
    sex: male > female
    spastic diplegia/quadriplegia/tetraplegia