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]

• 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]

  […] 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]

  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]

• Eye Movements Abnormal

  SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. [malacards.org]

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

  Disease Ontology Browser spinocerebellar ataxia type 5 ( DOID:0050882 ) Alliance: disease page Alt IDs: OMIM:600224 Definition: An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities [informatics.jax.org]

  movements abnormal: SCA 6 ; 26 ; 30 ; 37 Maculopathy (Visual loss): SCA 7 Pseudoexophthalmos: SCA 1, 2, 3 Ptosis: SCA 7, 28 Oculomotor apraxia: Saccades slow Orthostatism ; Recessive Motor Motor neuron & Fasciculations: SCA 3, 36 Cramps: 2, 3 UMN signs [neuromuscular.wustl.edu]

• Suggestibility

  We also found that mutant PKCγ colocalized with wild-type PKCγ, which suggests that mutant PKCγ acts in a dominant-negative manner on wild-type PKCγ. In contrast, PKCα did not colocalize with mutant PKCγ. [ncbi.nlm.nih.gov]

• Paranoid Ideation

  ideation 0.22 (0.30) 0.17 (0.19) Psychoticism 0.09 (0.14) 0.03 (0.05) Extra-scale 0.50 (0.69) 0.83 (0.51) Clinical assessment All affected subjects underwent a standardized neurological clinical investigation at baseline and at three years follow up. [bmcneurol.biomedcentral.com]

• Hyperreflexia

  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]

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

  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]

• Axial Dystonia

  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]

• Generalized Tonic-Clonic Seizure

  Recessive WWOX mutations were also recently identified in spinocerebellar ataxia type 12, a known neurodegenerative disorder that is also accompanied by intellectual disability and epilepsy with generalized tonic-clonic seizures. Synthesis. [epilepsygenetics.net]

• Clonus

  Two had a mild spastic catch at the knees (Modified Ashworth Scale grade 1), but ankle clonus was absent and Babinski reflexes were downgoing in all. Two of the six subjects demonstrated decreased distal pinprick sensation in the lower limbs. [jnnp.bmj.com]

• White Matter Lesions

  matter lesions Controls Ten family members, six females and four males, were included as intrafamilial controls. [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]

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

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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. (See 'Classification of SCA' above.) [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]

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]