Neurology · Neurology / Movement disorders; Endocrinology
Hereditary spastic paraplegia type 22
also: Allan–Herndon–Dudley syndrome; SPG22
X-linked MCT8 deficiency with hypotonia and spastic paraplegia.
- 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
- Alternative names & eponyms
- Allan–Herndon–Dudley syndrome; SPG22
Etiology & mechanism
Loss of thyroid hormone transporter.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with Hereditary spastic paraplegia type 22 may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, spastic quadriplegia
1 shared
Benign hereditary chorea
hypotonia
1 shared
Brain–lung–thyroid syndrome
hypotonia
1 shared
Cerebral folate deficiency syndrome
hypotonia
1 shared
Coffin–Siris syndrome
hypotonia
1 shared
Cohen syndrome
hypotonia
1 shared
Congenital myasthenic syndrome
hypotonia
1 shared
Cri du chat syndrome
hypotonia
1 shared
Crigler–Najjar syndrome
hypotonia
1 shared
Down syndrome
hypotonia
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