Pregnancy Management Weight gain during pregnancy can further impair gait ataxia. [ncbi.nlm.nih.gov]

Castilian) Pronunciation Spanish (Castilian) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Mexico) Pronunciation Swedish Pronunciation Swedish Pronunciation Turkish [pronouncekiwi.com]

It is more common in certain ethnic populations, including in those of Amish, Mennonite, Costa Rican, Polish, British, Italian, Turkish, Iranian, and Israeli descent. [emedicine.com]

Three individuals reported mild bladder control issues, and one had nocturnal enuresis. Two persons reported occasional sudden trunk movements consistent with myoclonic jerks though no myoclonus was observed during examination. [link.springer.com]

When dysphagia becomes troublesome, video esophagrams can identify the consistency of food least likely to trigger aspiration. Note: Tremor-controlling drugs are not effective for cerebellar tremors. [ncbi.nlm.nih.gov]

[…] incoordination or muscle weakness) Speech therapy and communication devices (such as writing pads and computer-based devices) can be helpful for those with dysarthria Feeding assessment if dysphagia is present (dysphagia can lead to malnutrition, dehydration, aspiration [wiki.ggc.usg.edu]

For individuals with frequent choking or severe dysphagia, speech pathology evaluation may be important in assessing aspiration risks. Treatment of Manifestations Epileptic seizures can be improved by treatment with anticonvulsive medications. [ncbi.nlm.nih.gov]

Three individuals reported mild bladder control issues, and one had nocturnal enuresis. Two persons reported occasional sudden trunk movements consistent with myoclonic jerks though no myoclonus was observed during examination. [link.springer.com]

Signs and symptoms [ edit ] SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria, mental retardation, and nystagmus. [en.wikipedia.org]

Signs and symptoms SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria, mental retardation, and nystagmus. [ipfs.io]

We identified a Filipino pedigree with adult onset gait/limb ataxia, dysmetria, hypotonia, dysarthria, and nystagmus. Linkage analysis mapped the causative mutation to a 4cM region of 19q13. [ashg.org]

Spinocerebellar ataxia 1 See the list below: Clinical features Onset in the fourth decade of life Gait ataxia, dysarthria, dysmetria, nystagmus, peripheral neuropathy, muscle wasting, and dystonia in late stages of the disease Gain of function mutation [emedicine.com]

[…] dominant disorder Brain MRIs have been performed in several long-term affected patients, which have shown to possess mild to moderately severe spinocerebellar degeneration Characteristics and symptoms include: Dysarthria (motor speech disorder) Pathologic nystagmus [wiki.ggc.usg.edu]

The Montreal cognitive assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc. 2005;53:695–9. CrossRef PubMed Google Scholar 11. [link.springer.com]

The p.Arg423His variant has also been associated with mild cognitive impairment and seizures. Penetrance KCNC3 pathogenic variants appear to be fully penetrant in the families described. Anticipation Anticipation is not observed. [ncbi.nlm.nih.gov]

Overall, our case series extends the phenotype and suggests that protein kinase Cγ gene mutations should be considered in patients with slowly progressive autosomal dominant cerebellar ataxia, particularly when myoclonus, dystonia, or mild cognitive impairment [discovery.ucl.ac.uk]

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.com]

Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia. [uniprot.org]

However, other common SCA28 features like pyramidal tract signs (lower limb hyperreflexia, positive Babinski sign), ophthalmoparesis or ptosis were absent. [lf2.cuni.cz]

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]

Discussion Spinocerebellar ataxia type 7 (SCA 7) is a polyglutamine (polyQ) neurodegenerative disease characterized by progressive cerebellar ataxia and retinal degeneration with ophthalmoplegia, hyperreflexia, sensory loss, dysarthria, and dysphagia. [oatext.com]

However, other common SCA28 features like pyramidal tract signs (lower limb hyperreflexia, positive Babinski sign), ophthalmoparesis or ptosis were absent. [lf2.cuni.cz]