Autosomal recessive cerebellar ataxia type 1
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterised by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.
Descrizione
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterised by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
ARCA1
Autosomal recessive spinocerebellar ataxia 8
Recessive ataxia of Beauce
Related patient information and medicines
Patient information leaflet
Malattia celiaca
Coeliac disease (also spelled celiac disease) mainly affects the part of the gut called the small intestine. It can occur at any age. Coeliac disease is caused by a r... Unexplained peripheral neuropathy , which could be gluten neuropathy. Persistent, unexplained abnormal liver function tests. Unexplained ataxia, that could be gluten ataxia..
Patient information leaflet
Malattia di Huntington
What causes Huntington's disease. Malattia di Huntington is caused by a defective gene that you inherit from your parents. Malattia di Huntington is an autosomal dominante condition, meaning you can inherit dello malattia from just one of your parents. If one of your parents has a faulty copy of the gene, there is a 50:50 chance that each child they have.
Patient information leaflet
Contatto con la varicella in gravidanza
There are oth... This leaflet is primarily intended for pregnant women who may have come into contact with someone who has chickenpox or shingles. Chickenpox contact in pregnancy A person with chickenpox is very infectious. About 1 in 100 pregnant women who develop chickenpox-related pneumonia die of this serious infection. Cervello inflammation.
Patient information leaflet
Diabete
There are two main types of diabetes - diabete di tipo 1 and type 2 diabetes. Type 1 diabetes Around 10% of people with diab... Type 1 diabetes is an autoimmune condition. It is not caused by someone's diet or lifestyle. Other genetic diseases that can cause diabetes : these include Friedreich's ataxia and haemochromatosis. Causes of type 1 diabetes.
Patient information leaflet
Disordini di accumulo di glicogeno
Glycogen storage d... It is estimated that about one baby in every 20,000 to 40,000 babies born has a glycogen storage disorder. Glycogen storage disorders are inherited. This means that they are passed on in families through your genes. Autosomal recessive inheritance pattern Most, but not all, glycogen storage disorders are inherited in a.
Patient information leaflet
Deficit di alfa-1 antitripsina
Someone with COPD may have chronic bronchitis, or emphysema, or both. How is alpha-1 antitrypsin deficiency inherited. In order to develop A1AT deficiency, a person has to have two copies of the faulty gene on chromosome 14 - they have to have inherited a copy of the faulty gene from both of their parents. If a person just inherits one copy of the.
Ulteriori letture e riferimenti
- Autosomal recessive cerebellar ataxia type 1; MedlinePlus, National Library of Medicine.
- Beaudin M, Gamache PL, Gros-Louis F, Dupre N. SYNE1 Deficiency. 2007 Feb 23 [updated 2018 Dec 6]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1379/
- Dupre N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1):93-8. doi: 10.1002/ana.21143.
- Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007 Jan;39(1):80-5. doi: 10.1038/ng1927. Epub 2006 Dec 10.
- Izumi Y, Miyamoto R, Morino H, Yoshizawa A, Nishinaka K, Udaka F, Kameyama M, Maruyama H, Kawakami H. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology. 2013 Feb 5;80(6):600-1. doi: 10.1212/WNL.0b013e3182815529. Epub 2013 Jan 16. No abstract available.
- Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupre N, Rouleau GA. SYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA Neurol. 2013 Oct;70(10):1296-31. doi: 10.1001/jamaneurol.2013.3268.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.