ATAXIA ESPINOCEREBELOSA PDF

The spinocerebellar ataxias SCAs are a group of neurodegenerative diseases that have a genetic origin. Some are caused by a mutation in a gene that lead to the production of an abnormal protein called ataxin, a transcription factor that tends to form inclusions in the nucleus and cytoplasm of the cell. This alteration has been associated with the clinical and pathological manifestations of this disease. However, little is known about these diseases in many Latin American countries.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

Higher prevalence is described in some populations such as in Scandinavia or South Africa. Onset of Spinocerebellar ataxia type 7 SCA7 is generally in the second to fourth decade but can range from infancy to the sixth decade of life. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones.

Changes in visual acuity and color vision tritanopia may be the earliest signs of the disease, especially in younger-onset patients. In those where initial symptoms occur before adolescence, the disease progresses much faster and blindness can occur within a few years. In those with adult-onset disease, manifestations include dysmetria, poor coordination and dysdiadokinesia with progression into severe dysarthria, dysphagia and loss of motor control.

Visual symptoms hemeralopia, photophobia, abnormalities in color vision and central visual acuity may precede, accompany or follow cerebellar ataxia in those with adult-onset SCA7 but progression is slower, with blindness occurring 10 or more years after initial symptom onset. Psychosis and cognitive decline has also been reported in some cases. Patients eventually become bedridden. This mutation leads to degeneration in the cells of the retina, cerebellum and brainstem.

A larger CAG-repeat expansion is associated with an earlier onset and more severe disease course. Diagnosis is based on characteristic clinical findings progressive incoordination and cone-rod retinal dystrophy as well as molecular genetic testing.

Magnetic resonance imaging usually shows severe atrophy of the cerebellum and the brainstem. Electroretinogram testing reveals rod and cone abnormalities and fundoscopic examination shows macular changes later in the disease course. Differential diagnoses include lipid storage diseases such as neuronal ceroid lipofuscinosis and Leber hereditary optic neuropathy. Other forms of ADCA should also be considered but can be excluded based on the absence of retinal degeneration, which is unique to SCA7.

The disorder is inherited autosomal dominantly and genetic anticipation is observed. There is no cure for SCA7 and treatment is supportive. Activity should be maintained as much as possible with the help of canes and walkers. Motorized chairs may eventually be necessary.

Speech therapy and communication devices should be offered to those with dysarthria. UV exposure should be limited and sunglasses worn in order to limit damage to the retina. Low vision aids may also be beneficial. Ophthalmological follow-up is essential to monitor visual acuity.

Dysphagia must also be monitored and a feeding tube may be required in those with advanced disease, in order to lower the risk of aspiration pneumonia most common cause of death.

The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. Mean age when aid walking needed is about 35 years, and mean age when wheelchair needed is approximately 37 years. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message.

Disease definition An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Clinical description Onset of Spinocerebellar ataxia type 7 SCA7 is generally in the second to fourth decade but can range from infancy to the sixth decade of life.

Diagnostic methods Diagnosis is based on characteristic clinical findings progressive incoordination and cone-rod retinal dystrophy as well as molecular genetic testing. Differential diagnosis Differential diagnoses include lipid storage diseases such as neuronal ceroid lipofuscinosis and Leber hereditary optic neuropathy.

Genetic counseling The disorder is inherited autosomal dominantly and genetic anticipation is observed. Management and treatment There is no cure for SCA7 and treatment is supportive. Prognosis The prognosis depends on the age of symptom onset.

Detailed information Article for general public Svenska Professionals Clinical genetics review English Health care resources for this disease Expert centres Diagnostic tests Patient organisations 51 Orphan designation s and orphan drug s 3. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.

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.

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Spinocerebellar ataxia type 2 and Ehlers-Danlos syndrome : report of a case. AMC [online]. ISSN Background: spinocerebellar ataxia type 2 is a disease caused by the increase in the number of trinucleotide repeats consisting of adenine codon, cytosine and guanine, in the codifiable region ATNX2 gene, located in the long arm of chromosome It is characterized by a syndrome cerebellar associated with progressive slowing of saccadic eye movements, peripheral neuropathy, sleep disorders and in some cases manifestations of parkinsonism. Ehlers-Danlos is given by the laxity of joints, making them unstable.

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Ataxia Espinocerebelosa (SCA) tipo 36

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Higher prevalence is described in some populations such as in Scandinavia or South Africa. Onset of Spinocerebellar ataxia type 7 SCA7 is generally in the second to fourth decade but can range from infancy to the sixth decade of life.

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2016, Número 1

Medicina Buenos Aires ; Heterogeneous mutation processes in human microsatellite DNA sequences. Nat Genet ; Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet ; Medigraphic ; 3 3.

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