Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).


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PMID (PMCID)
29366381
 FEMALE
An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
Epperson MV, Haws ME, Standridge SM, Gilbert DL.
J Child Neurol. 2018;33(4):286-289.
Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome.
11473472
 FEMALE Adult
Colonic lymphoid hyperplasia in melanosis coli.
Pearce CB, Martin H, Duncan HD, Goggin PM, Poller DN.
Arch Pathol Lab Med. 2001;125(8):1110-2.
We describe the case of a patient with Rett syndrome, a syndrome characterized by progressive infant encephalopathy, developmental delay, dementia, autism, ataxia, microcephaly, spastic paraparesis, and autonomic neuropathy with constipation.
8075419
 FEMALE Child
Auditory evoked potentials in Rett syndrome.
Stach BA, Stoner WR, Smith SL, Jerger JF.
J Am Acad Audiol. 1994;5(3):226-30.
This study was designed to assess auditory function in subjects with Rett syndrome, a rare neurologic disorder that is characterized by progressive symptoms of dementia, ataxia, respiratory disorder, and communication disorder.
1298942
 FEMALE
[Rett's syndrome: description of a case with abnormal respiratory pattern].
Pertile N, Vergerio A, Galliani E, Turrin A, Caddia V, Rasori E.
Pediatr Med Chir. 1992;14(6):647-50.
Rett' syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures.
3657039
 FEMALE
[Rett syndrome--case report].
Glaser D, Marx H, Pawlowitzki IH.
Klin Padiatr. 1987;199(4):307-8.
We report on a 13 years old girl with Rett syndrome (autism, dementia, ataxia and loss of purposeful hand use in girls).