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A–T is caused by mutations in the ATM (ATM serine/threonine kinase or ataxia–telangiectasia mutated) gene, which was cloned in 1995. [3] ATM is located on human chromosome 11 (11q22.3) and is made up of 69 exons spread across 150kb of genomic DNA. [25] The mode of inheritance for A–T is autosomal recessive. Each parent is a carrier ...
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination . The condition typically manifests in childhood or adolescence, with initial ...
Spinocerebellar ataxia, autosomal recessive 6 608029: Disease ID 4954 at NIH's Office of Rare Diseases: Spinocerebellar ataxia, autosomal recessive 21 - mutation in SCYL1: Online Mendelian Inheritance in Man (OMIM): 616719: ORPHA:466794: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 607250: Disease ID 10000 at NIH's Office ...
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
Gillespie syndrome is a heterogeneous disorder, and can be inherited in either an autosomal dominant or recessive manner. [4] [6] Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.
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. [5] The genes that underlie majority of the symptoms for the different types of ataxia are still unknown.
Autosomal dominant cerebellar ataxia; Other names: Autosomal dominant spinocerebellar ataxia [1] Autosomal dominant is the manner in which this condition is inherited: Symptoms: Multi system involvement [2] Types: ADCS type1, ADCA type 2, ADCA type 3 [2] Diagnostic method: MRI, CT scan [3] Treatment: Anticonvulsants may be used [2]
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