Symptoma

Autosomal Recessive Spinocerebellar Ataxia Type 17

SCAR17

More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. [orpha.net]

At present, the mutation can be detected in carriers, making genetic counselling possible for individuals planning to conceive. [elsevier.es]

These patients present with gait ataxia usually with headache and papilledema. Progressive hydrocephalus can also present with subacute-onset ataxia. [jpgmonline.com]

[…] of patients with a HDL clinical presentation. [movementdisorders.org]

The age of onset and the presenting symptoms as well as the rate of progression varied in our family. [docplayer.net]

  • Aspiration

    More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. [orpha.net]

  • Tongue Atrophy

    It presents with cerebellar ataxia, sensorineural hearing loss, and discrete motor neuron impairment (tongue atrophy with denervation, discrete pyramidal signs). [elsevier.es]

    DIAGNOSIS  Recognize progressive ataxia syndrome and associated features  Oculomotor : slow saccades  Bulbar : facial, temporal, tongue atrophy, fasciculation,  cough, dysphagia  UMN : brisk reflexes, spasticity, Babinski  Extrapyramidal : bradykinesia [slideshare.net]

  • Purpura

    […] factor VIII deficiency [hemophilia A/VWF] D67 Hereditary factor IX deficiency [hemophilia B] D68.2 Hereditary deficiency of other clotting factors [deficiency of factor II (prothrombin), 20210A mutation] D69.42 Congenital and hereditary thrombocytopenia purpura [aetna.com]

  • Short Arm

    The condition is caused by a genetic mutation (intronic hexanucleotide repeat expansion) in the NOP56 gene on the short arm of chromosome 20 (20p13). [elsevier.es]

    A point mutation in the PMP22 gene which encodes a peripheral myelin protein with an apparent molecular weight of 22,000 or a DNA duplication of a specific region 5 megabases) including the PMP22 gene in the proximal short arm of chromosome 17 (band 17p11.2 [aetna.com]

  • Hydrops Fetalis

    Suspected Diagnosis Achondroplasia (FGFR3) Albinism Alpha-1 antitrypsin deficiency (SERPINA1) Alpha thalassemia / Hb Bart hydrops fetalis syndrome/HbH disease Footnotes ** (HBA1/HBA2, alpha globin 1 and alpha globulin 2) (see below) Angelman syndrome [aetna.com]

  • Dysmetria

    SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and [malacards.org]

    Oculomotor ataxia accompanies gait ataxia which causes dysarthria, muscle weakeness, loss of joint position sense and limb dysmetria. In some cases, patients have shown mental retardation and loss of myelinated axons. [ipfs.io]

    Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6. [slideshare.net]

    A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

    Clinical examination reveals a gait disorder with imbalance, staggering, and difficulties with tandem walking, upper-limb and lower-limb dysmetria, dysdiadochokinesia (difficulty performing rapidly alternating movements), hypotonia, cerebellar dysarthria [blogs.nejm.org]

  • Dysmetria

    SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and [malacards.org]

    Oculomotor ataxia accompanies gait ataxia which causes dysarthria, muscle weakeness, loss of joint position sense and limb dysmetria. In some cases, patients have shown mental retardation and loss of myelinated axons. [ipfs.io]

    Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6. [slideshare.net]

    A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

    Clinical examination reveals a gait disorder with imbalance, staggering, and difficulties with tandem walking, upper-limb and lower-limb dysmetria, dysdiadochokinesia (difficulty performing rapidly alternating movements), hypotonia, cerebellar dysarthria [blogs.nejm.org]

  • Neurologic Manifestation

    manifestations of ataxic disorders. [books.google.com]

    manifestations beginning in childhood relate to complementation group Ataxia Telangiectasia Progressive ataxia plus Autosomal recessive 11q22-q23 ATM gene Product belongs to the P-13 kinase family of proteins involved in DNA damage recognition Ataxia [emedicine.medscape.com]

    Because some patients with MIRAS have presented with ataxia or epilepsy already in childhood, these investigators searched for POLG1 mutations in neurologic manifestations in childhood. [aetna.com]

However, traditional one-by-one genetic testing facilitating the diagnostic workup is increasingly replaced by simultaneous gene testing using next-generation multiple gene panels and whole exome/genome sequencing. [movementdisorders.org]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

In addition, new neurophysiological and imaging techniques are discussed, along with an in-depth examination of the treatment and management protocols of ataxic diseases. [books.google.com]

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]

Treatment There is no specific treatment for SCA36. In Galicia, there are over 100 patients and carriers of the mutation (those who have voluntarily undergone genetic testing). [elsevier.es]

Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a... [evidence.nhs.uk]

Prognosis Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. [orpha.net]

Prognosis The prognosis for a person with ataxia depends upon the type and nature of the disease. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability. [encyclopedia.com]

Prognosis Spinocerebellar ataxias due to repeat expansion mutations usually become sick in middle age. In addition to ataxia, other neurological findings are often present depending on the variant of SCA. [verywell.com]

Treatment and prognosis Edit There is no known cure for spinocerebellar ataxia, which is a progressive disease (it gets worse with time), although not all types cause equally severe disability. [psychology.wikia.com]

Treatment and prognosis There is no known cure for spinocerebellar ataxia, which is a progressive disease (it gets worse with time), although not all types cause equally severe disability. [wikidoc.org]

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.com]

Etiology SCA17 is caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. [orpha.net]

Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA. [wjgnet.com]

Etiology • Degenerative – MSA, Progressive myoclonic epilepsy • Stroke – cerebellar, thalamic, brainstem, pontomedullary junction, lesions causing ataxic hemiparesis • Tumors- Medulloblastoma, Astrocytoma, Ependymoma, Hemangioblastoma, Metastasis, Meningioma [slideshare.net]

Summary Epidemiology Worldwide prevalence is unknown. Local prevalence is 0.47 per 1,000,000 in the Japanese population and 0.16 per 100,000 in North-East England. Fewer than 100 families have been reported to date. [orpha.net]

There is a growing interest in the role of RNA in neurodegenerative diseases. 17 Epidemiology Prevalence of SCA varies considerably from country to country. [elsevier.es]

Consequently, they are often approached together in epidemiological studies. [karger.com]

Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea. [e-jmd.org]

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]

Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders. [books.google.com]

The molecular pathophysiology is not fully understood. [movementdisorders.org]

Minotti, et al Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. Hum. Mol. Genet. 24: Girard, M., R. Lariviere, D. A. Parfitt, E. C. Deane, R. Gaudet, N. [docplayer.net]

"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]

Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ]. [wjgnet.com]

Abetalipoproteinemia treatment is received for its potential in preventing vitamin E deficiency. (1000 mg/day for infants and over 5,000 mg/day for adults.) [ipfs.io]

Skin care and eventual placement of PEG tube (feeding tube) in patients with swallowing difficulties will help prevent lung infections. For more information, see Appendix - Classification of Spinocerebellar Ataxias. [bcm.edu]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]

Treatment Except for some acquired and reversible forms of ataxia as initially described, there is no cure or preventive treatment for the progressive forms of the disease, or for those ataxias resulting from accidental lesions of motor brain areas and [encyclopedia.com]

Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. [karger.com]