Similar Diseases
- ARCA1
- Ataxie spinocérébelleuse à début infantile avec retard psychomoteur
- Autosomal recessive cerebellar ataxia-psychomotor retardation syndrome
- Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- Ataxia-deafness syndrome X-linked
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
- Olivopontocerebellar Atrophy, X-Linked
- Autosomal recessive spinocerebellar ataxia 19
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Results for Query ‹ ARCA1 risk ›
Autosomal recessive cerebellar ataxia type 1 – Prognosis
In most cases, between the age of 2 and 4 oculomotor signals are present. Between the age of 2 and 8, telangiectasias appears. Usually by the age of 10 the child needs a wheel chair. Individuals with autosomal recessive cerebellum ataxia usually survive till their 20s; in some cases individuals have survived till their 40s or 50s.
Autosomal recessive cerebellar ataxia type 1 – Genetics
Ataxia with telangiectasia is a rare form ataxia that causes chromosomal instability, sensitivity to ionizing radiation, disrupted stress-activated signal transduction pathways and radioresistant DNA synthesis.
The genes that underlie majority of the symptoms for the different types of ataxia are still unknown. A productive cure is still unavailable to prevent the brain degeneration associated with ataxia.
Oculomotor ataxia accompanies gait ataxia which causes dysarthria, muscle weakness, loss of joint position sense and limb dysmetria. In some cases, patients have shown mental retardation and loss of myelinated axons.