We describe three genetically confirmed myoclonus dystonia (M-D) patients and one spinocerebellar ataxia type 14 (SCA14) patient, presenting with a combination of trunk tremor, multifocal myoclonus and axial dystonia as predominant clinical features. [ncbi.nlm.nih.gov]

Onset of permanent gait ataxia – presenting symptom in all but three – varied between 4 and 50 years (mean±SD 38±15y). Five subjects reported minor or episodic motor difficulty of gait or speech already present in childhood. [mdsabstracts.org]

• Falling

  MANAGEMENT: Treatment of manifestations: Clonazepam or valproic acid to help improve axial myoclonus; canes and walkers to help prevent falls; modification of the home (grab bars, raised toilet seats, ramps for motorized chairs); weighted eating utensils [ncbi.nlm.nih.gov]

  Evaluation at 1 month (plus or minus 5 days) and 3 months (plus or minus 5 days) Outcome Measures Primary Outcomes Incidence of side effects Side effect profile Secondary Outcomes Timed-up-and-go test ICARS score SARA score Modified Falls Efficacy Scale [clinicaltrials.gov]

  As the risk of falls becomes increasingly apparent with disease progression, it is important that the patient’s safety in day-to-day activity becomes a priority. [10] It may be necessary that the patient be evaluated for appropriate physical aids such [physio-pedia.com]

  This falls under the category of genetic anticipation. [ citation needed ] Several types of SCA are characterized by repeat expansion of the trinucleotide sequence CAG in DNA that encodes a polyglutamine repeat tract in protein. [en.wikipedia.org]

  […] in a family with an ADCA that has not been assigned an SCA number. 17 SCA 14 is due to mutation (missense, small deletion, splice site) in the PRKCG gene. 2, 3, 6, 7 Most mutations have been in the cysteine rich region of the gene, and most of these fall [jnnp.bmj.com]

• Abnormal Eye Movement

  SCA 16 14 is associated with horizontal gaze evoked nystagmus, but other specific details of eye movement abnormalities are not mentioned. [jnnp.bmj.com]

  Egan RA, Camicioli R, Popovich BW: A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements. Eur Neurol 2000; 44: 189-190. [scabase.eu]

• Hyperreflexia

  In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. [orpha.net]

  Affiliated tissues include eye, brain and cerebellum, and related phenotypes are progressive cerebellar ataxia and hyperreflexia OMIM : 56 Autosomal recessive spinocerebellar ataxia-14 is a neurologic disorder characterized by delayed psychomotor development [malacards.org]

  All had at least mild hyperreflexia, with evidence of abnormal reflex spread in the upper and/or lower limbs in four of the six subjects. [jnnp.bmj.com]

  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]

  FGF14 13q34 SCA35 40-48 years Unknown gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses, reduced proprioception and hyperreflexia China transglutaminase 6 ( TGM6 [en.wikipedia.org]

• Dysmetria

  Mild or moderate cerebellar ataxia was present in the upper and lower limbs, with all affected patients showing signs of dysmetria, overshoot on ballistic tracking movements, abnormal ramp tracking in the upper limbs, and dyssynergia and dysmetria in [jnnp.bmj.com]

  FGF14 13q34 SCA35 40-48 years Unknown gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses, reduced proprioception and hyperreflexia China transglutaminase 6 ( TGM6 [en.wikipedia.org]

  During the last two decades there has been a growing interest for the cerebellum’s role also in non-motor functions, with the introduction of the “dysmetria of thought”-hypothesis and the clinically described Cerebellar Cognitive Affective Syndrome (CCAS [bmcneurol.biomedcentral.com]

Science & Business Media, 11.03.2010 - 304 Seiten This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments [books.google.de]

Seventeen states have approved medical marijuana for the treatment of spasms, which are commonly associated with spinocerebellar ataxia. [medicalmarijuanainc.com]

Lithium treatment Start treatment and remain in hospital until the blood level of the drug is stabilized; continue treatment at home after hospital discharge. Admission 2 (2-4 days, 4 weeks after hospital discharge). [clinicaltrials.gov]

Prognosis Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age. [orpha.net]

Prognosis - Spinocerebellar ataxia 14 Not supplied. Treatment - Spinocerebellar ataxia 14 Not supplied. Resources - Spinocerebellar ataxia 14 Not supplied. [checkorphan.org]

(See 'Prognosis' above and 'Treatment' above.) SCA3, also known as Machado-Joseph disease, is the most common type of SCA (table 1). SCA types 9 through 36 are rare and less well characterized. [es.slideshare.net]

They most likely affected the clinical severity and also the cause of the poor prognosis. SCA31 is an autosomal dominant disorder with adult onset and a slowly progressive pure cerebellar ataxia. [karger.com]

These results indicate that SCA14 mutations make gammaPKC form cytoplasmic aggregates, suggesting the involvement of this property in the etiology of SCA14. [ncbi.nlm.nih.gov]

Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies [books.google.de]

Etiology SCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). Prognosis Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. [orpha.net]

Summary Epidemiology The disease has been reported in more than twenty families from Europe, the United States, and Australia. [orpha.net]

The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]

[…] repeated CAG code only partially explains the effects of MJD. [4] MJD is the most common form of spinocerebellar ataxia (SCA). [4] On a global scale, spinocerebellar ataxia disorders are considered rare with a prevalence of 0.2-0.3 per 100,000. [5] The epidemiology [physio-pedia.com]

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology Stoyas CA, La Spada AR Handbook of clinical neurology, 2018, 147, p 143 Cajal bodies in neurons Lafarga M, Tapia O, Romero AM, et al. [myobase.org]

Advances in molecular biology are helping to form a better picture of the underlying pathophysiology, and this better understanding has contributed to the development of multiple experimental strategies for symptomatic improvement and to slowing the progression [medlink.com]

"Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation. 25 (3): 195–216. doi : 10.1177/0269215510382495. PMID 21321055. ^ "SCA2 information sheet from www.ataxia.org" (PDF). Archived from the original (PDF) on 2012-07-12. [en.wikipedia.org]

Molecular chaperones assist the refolding and degradation of misfolded proteins and prevention of the proteins' aggregation. [ncbi.nlm.nih.gov]

Molecular chaperones assist the refolding and degradation of misfolded proteins and prevention of the proteins’ aggregation. [pubag.nal.usda.gov]

Prevention - Spinocerebellar ataxia 14 Not supplied. Diagnosis - Spinocerebellar ataxia 14 The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Spinocerebellar ataxia 14. [checkorphan.org]