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Autosomal Recessive Spastic Ataxia Type Charlevoix-Saguenay

SACS


Presentation

  • In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil.[ncbi.nlm.nih.gov]
  • Superior vermian atrophy is always present in patient with ARSACS 5. A tigroid pattern of the pons has been described (linear hypointensity on T2-WI), and is mainly seen in ARSACS 11.[radiopaedia.org]
High Arched Palate
  • On general physical examination, he was thin built and was noted to have high-arched palate, long slender fingers, and hypertelorism. He was right-handed and had a mini-mental status examination score of 30/30.[amhsjournal.org]
Kayser-Fleischer Ring
  • Slit lamp evaluation did not reveal a KayserFleischer ring. Echocardiography was normal.[amhsjournal.org]
Hypertelorism
  • On general physical examination, he was thin built and was noted to have high-arched palate, long slender fingers, and hypertelorism. He was right-handed and had a mini-mental status examination score of 30/30.[amhsjournal.org]
Anger
  • […] le Mans University and Neurology Service, CNRS UMR6214, INSERM U1083, University Hospital Center, Angers, France. 12 Ophthalmology Service, Angers University Hospital Center, Angers, France and Singapore National Eye Centre, Singapore Eye Research Institute[ncbi.nlm.nih.gov]
Dysmetria
  • Many had saccadic dysmetria. but saccade velocity was probably unaffected. Abnormallies pointing to brainstem disturbance were sparse.[journals.cambridge.org]
  • Dysarthria, dysmetria LE UE ATR none, Bab -/- urge incontinence urine #6 p.[Arg3875His]; [Leu549_Leu552del]; [Ser4513Asn] Macedonia 30/m 1 gait disturbance 9 dysmetria UE LE - ATR spasticity, Bab / - #7 p.[ojrd.biomedcentral.com]
  • Schmahmann JD: Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci 2004;16:367–378.[karger.com]
  • Saccadic dysmetria Investigations were extensive and ruled out Neimann-Pick disease, types A, B and C and atypical mitochondrial disease.[collections.lib.utah.edu]
  • When she was 8 years old, the physical examination of the girl revealed a slight dysarthria, dysmetria on a finger-to-nose test, slowing of fast repetitive movements, and increased tricipital reflex.[ajnr.org]
Hyperreflexia
  • There is ankle arreflexia and knee hyperreflexia. Nystagmus, Babinski signs, and proprioceptive sensory loss are universally present. Some patients have amyotrophy of the lower limbs.[ataxia.uchicago.edu]
  • People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control.[icdlist.com]
  • Clinical examination showed an ataxic gait, with appendicular dysmetria, and patellar and ankle hyperreflexia. Muscle tone and strength were preserved.[oatext.com]
  • -- 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]
  • […] dysarthria, nystagmus; partial complex and generalized motor seizures; polyneuropathy; genetic testing available SCA11 (autosomal dominant type 11) 15q14-q21.3 by linkage Slowly progressive gait and extremity ataxia, dysarthria, vertical nystagmus, hyperreflexia[accessmedicine.mhmedical.com]
Babinski Sign
  • Nystagmus, Babinski signs, and proprioceptive sensory loss are universally present. Some patients have amyotrophy of the lower limbs. Echocardiograms frequently show mitral valve prolapse, but no cardiomyopathy.[ataxia.uchicago.edu]
  • The pyramidal syndrome is characterized by rapid tendon reflexes of knee bone and Babinski signs.[tellmegen.com]
  • The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign.[orpha.net]
Motor Symptoms
  • Apart from motor symptoms, motivational deficits along with cognitive and behavioral dysfunctions were present; these were much more pronounced in the older sib.[ncbi.nlm.nih.gov]
  • Results: Apart from motor symptoms, motivational deficits along with cognitive and behavioral dysfunctions were present; these were much more pronounced in the older sib.[karger.com]
Language Delays
  • delay Laboratory findings Elevated 4-hydroxybutyric acid in plasma, urine, and CSF High free GABA in CSF Cerebellar atrophy on MRI Treatment L-carnitine supplementation has been tried with improvement in muscle tone.[emedicine.medscape.com]

Workup

Acanthocytes
  • Blood investigation revealed normal blood counts and no acanthocytes in peripheral smear. Slit lamp evaluation did not reveal a Kayser–Fleischer ring. Echocardiography was normal.[amhsjournal.org]

Treatment

  • treatment articles: Treatments for Ataxia Causes See also causal information: Causes of Autosomal recessive disorders Causes of Ataxia Similar Topic Articles Autosomal recessive diseases Spastic ataxia Ataxia Names and Terminology Other Names for This[familydiagnosis.com]
  • The SACS can assist in identifying young people at risk of AOD problems and guide future treatment or referral options. In addition it can measure outcome as young people progress through the treatment process. The SACS has three sections.[optforwellbeing.org]
  • Management and treatment Treatment is symptomatic aiming towards controlling the spasticity and should include physiotherapy, pharmacotherapy and use of ankle-foot orthoses. Prognosis Most patients become wheelchair-bound by the 5th decade of life.[orpha.net]
  • This score can be used to screen or measure change through a treatment episode. The third section asks about tobacco use.[werryworkforce.org]

Prognosis

  • Prognosis Most patients become wheelchair-bound by the 5th decade of life. Death generally occurs during the sixth decade but survival into the seventies has been reported.[orpha.net]
  • You can help by adding to it. ( March 2018 ) Prognosis [ edit ] Most patients begin to use a wheelchair for movement around age 30–40. [9] Death usually occurs in their 60s, but some have been reported to live longer. [4] References [ edit ] Bouchard[en.wikipedia.org]
  • Diagnosis and Prognosis: The diagnosis of this type of spastic ataxia is most likely to be made by a neurologist but an ophthalmologist is most likely to be the one to see the patches in the retina.[disorders.eyes.arizona.edu]
  • Prognosis Most patients become wheelchair-bound by the 5th decade of life. Death generally occurs during the sixth decade but survival into the seventies has been reported. Last updated: 6/17/2008[rarediseases.info.nih.gov]

Etiology

  • Etiology ARSACS is caused by autosomal recessive mutations in the SACS gene (13q11), which encodes a large protein of unknown function named sacsin.[orpha.net]
  • A diagnosis of spinocerebellar ataxia of unknown etiology was given. Distance visual acuity was 4/10 in either eye whereas near vision was better at 6/10 RE and 8/10 LE.[frontiersin.org]
  • Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA.[wjgnet.com]

Epidemiology

  • Summary Epidemiology It was initially described in the Charlevoix-Saguenay region of Quebec where incidence of ARSACS at birth has been estimated at 1 in 1,932.[orpha.net]
  • Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec . Genetic Epidemiology, Vol. 10, Issue. 1, p. 17. CrossRef Google Scholar Theunissen, Eric J.J.M.[journals.cambridge.org]
  • Epidemiology It was initially described in the Charlevoix-Saguenay region of Quebec where incidence of ARSACS at birth has been estimated at 1 in 1,932.[rarediseases.info.nih.gov]
  • For many other subtypes epidemiological data are missing and their complete phenotypic spectrum is still unknown as descriptions often rely on reports of only few families.[ataxia-study-group.net]
Sex distribution
Age distribution

Pathophysiology

  • To explore the pathophysiological basis for this observation, we examined the cell biological properties of sacsin.[ncbi.nlm.nih.gov]
  • Hoppenbrouwers SS, Schutter DJ, Fitzgerald PB, Chen R, Daskalakis ZJ: The role of the cerebellum in the pathophysiology and treatment of neuropsychiatric disorders: a review. Brain Res Rev 2008;59:185–220.[karger.com]

Prevention

  • Each State AIDS Prevention and Control Society has a governing body, its highest policy-making structure, headed either by the minister in charge of health or the chief secretary.[naco.gov.in]
  • Diffusion tensor imaging (DTI) revealed grossly over-represented transverse pontine fibres (TPF), which prevented reconstruction of the CST at this level (100% of cases).[ncbi.nlm.nih.gov]
  • Hip and knee muscle retraction prevents full leg extension.[oatext.com]
  • In addition, he loves to hide children’s toys, set animals loose, tease dogs, and curse chicken eggs to prevent them from hatching.[yerbamateblog.com]
  • Furthermore, treatment can prevent neurological symptoms, so early diagnosis and treatment is important and essential for CTX.[e-jmd.org]

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