Congenital ataxias display symptoms within the first year of life and are often non-progressive, while the late onset ataxias are more commonly progressive and result in patients rapidly becoming wheelchair bound. [centogene.com]

In the Québecois cases, only 4% used a wheelchair before the age of 18. 19 Mean age to being wheelchair-bound was around 40 (range 17-58) and to death around 50 (range 21-72). 18 From childhood, deep tendon reflexes are frequently increased, but by adulthood [acnr.co.uk]

Some patients (38%) are wheelchair-bound after disease duration of more than 33 years. Dysphagia and dysarthria are uncommon. [disorders.eyes.arizona.edu]

bound after 10 years Tremor Hyperreflexia Torticollis Occular dysmetria Position sense defects Spinocerebellar ataxia 36 [40] Clinical features Mean age of onset - Approximately 53 years Truncal ataxia Ataxic dysarthria Limb ataxia Dysdiadochokinesis [emedicine.medscape.com]

[…] found but may be more prominent amongst cases involving SACS gene deletions. 9, 21, 24 Bladder and bowel symptoms are not well-studied in ARSACS although urinary urge incontinence has been most commonly described. 2,6,18,21,23 Faecal incontinence and constipation [acnr.co.uk]

Although mitral valve prolapse was described in the original cases of ARSACS, 2 this finding has not been replicated in subsequent studies of families outside Québec. [acnr.co.uk]

deformities; defective iron transport from mitochondria Friedreich's ataxia (autosomal recessive) 9p13 (intron 1), GAA repeats, Frataxin Same as phenotype with maps to 9q but associated with vitamin E deficiency Kearns-Sayre syndrome (sporadic) MtDNA [bcm.edu]

deformity Yes FXTAS FMR1 /FMRP protein Ehm et al. [ 62 ] Gait ataxia, parkinsonism, mood disorder, high signal in MCP Yes Table 3. [e-jmd.org]

[…] technique and its uses in neurological disease have previously been reviewed in this journal. 34 In ARSACS, OCT shows thickening of the RNFL in all sectors around the disc, with average peripapillary thicknesses of between 119 and 220μm. 22,29-33 In the macula [acnr.co.uk]

SCA1 belongs to ADCA I group without known retinal involvement, whereas in SCA7 (ADCA II) degeneration of macula or retina is well established [5], [6]. [journals.plos.org]

The second part of the book applies this synthesis to the clinical and laboratory evaluation of patients with abnormal eye movements due to a broad range of disorders - from muscular dystrophy, and genetic disorders, to dementia, including visual and [books.google.com]

Clinical signs are varied, with some patients having limb and gait ataxia along with episodic headaches or nausea, and others having gait ataxia, speech difficulty, and abnormal eye movements. [encyclopedia.com]

Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy Clinical Characteristics Ocular Features: Reported ocular signs are limited to abnormal eye movements. [disorders.eyes.arizona.edu]

Ataxia telangiectasia has many features in common with AOA together with cutaneous and scleral telangiectasiae, diabetes, immunodeficiency and sensitivity to radiation causing tumours. 19 Late-onset Alexander’s disease may have onset in adolescence and [acnr.co.uk]

SCA11 progresses slowly over decades, with onset between adolescence and young adulthood. All individuals develop gait disorders, increased reflex action, eye disturbances and irregular movements, and speech difficulties. [encyclopedia.com]

Affiliated tissues include eye, and related phenotypes are supranuclear gaze palsy and hyperreflexia UniProtKB/Swiss-Prot : 75 Spastic ataxia 1, autosomal dominant: An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder [malacards.org]

18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1 [emedicine.medscape.com]

Hyperreflexia and a positive Babinski sign are commonly presently. Mild cognitive impairment and depression have been seen in a minority of patients. Brain MRIs show cerebellar hemispheric and vermian atrophy. [disorders.eyes.arizona.edu]

SCA3 type 1 (MJD Type 1, see this term) is associated with ataxia, ophthalmoparesis, pyramidal signs such as spasticity and hyperreflexia, and extrapyramidal signs including dystonia and other movement disorders presenting in adolescence. [orpha.net]

mild SCA12 (autosomal dominant type 12) 5q31-q33, 66 CAG repeats in the promotor region, coding for protein phosphatase 2A Tremor, bradykinesia, parkinsonism, dementia, hyperreflexia SCA13 (single French family) 19q13.3-q13.4 (6q27 with CAG repeats [bcm.edu]

Ataxia is a neurological feature of abnormal gait due to the lack of appropriate muscle coordination and it is a common clinical symptom in hundreds of different diseases. [centogene.com]

Other main symptoms are irregularities in the retina of the eye, bone and skin changes, and the abnormal gait, speech patterns, and muscle movements associated with cerebellar ataxia. [encyclopedia.com]

Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [10] Individuals with HSP can experience extreme fatigue associated with central nervous system [en.wikipedia.org]

Dysarthria, dysphagia, and a spastic gait are experienced by the majority of individuals. Hyperreflexia and a positive Babinski sign are commonly presently. Mild cognitive impairment and depression have been seen in a minority of patients. [disorders.eyes.arizona.edu]

If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [en.wikipedia.org]

The patient showed the classic triad of early childhood-onset cerebellar ataxia, peripheral neuropathy and pyramidal tract signs such as spasticity, abnormal reflexes and the loss of the ability to perform fine motor movements. [e-jmd.org]

Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and dyslipidemia in patients with Tourette syndrome, and define the current status [books.google.com]