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Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.
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Ataxia and poor
Ataxia and coordination
Ataxia ( from Greek α-negative prefix +-τάξις = " lack of order "), is a neurological sign consisting of lack of voluntary coordination of muscle movements.
* Ataxia – This is a neurological clinical sign, consisting of unsteady and clumsy motion of the limbs and torso, due to failure of gross muscle movement coordination, most evident on standing and walking.
Ataxia oculomotor apraxia type 1 ( AOA1 ) is an autosomal recessive disorder similar to A-T in manifesting increasing problems with coordination and oculomotor apraxia, often at a similar age to those having A-T.
Ataxia oculomotor apraxia type 2 ( AOA2 ) is an autosomal recessive disorder also similar to A-T in manifesting increasing problems with coordination and peripheral neuropathy, but oculomotor apraxia is present in only half of affected individuals.
Ataxia and telangiectasia
These include Werner syndrome, Ataxia telangiectasia, Ataxia-telangiectasia like disorder, Bloom syndrome, Fanconi anemia, and Nijmegen breakage syndrome.
Ataxia telangiectasia ( A-T ) ( also referred to as Louis – Bar syndrome ) is a rare, neurodegenerative, inherited disease causing severe disability.
Ataxia telangiectasia mutated ( ATM ) is a serine / threonine protein kinase that is recruited and activated by DNA double-strand breaks.
Ataxia telangiectasia ( AT ) is a rare human disease characterized by cerebellar degeneration, extreme cellular sensitivity to radiation and a predisposition to cancer.
Ataxia telangiectasia mutated has been shown to interact with RAD17, RBBP8, RAD51, DNA-PKcs, RRM2B, FANCD2, Nibrin, TERF1, BRCA1, Abl gene, TP53BP1, MRE11A, P53, Bloom syndrome protein, SMC1A and RHEB.
Ataxia and both
Ataxia may depend on hereditary disorders consisting of degeneration of the cerebellum and / or of the spine ; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other.
Ataxia and which
A-T is caused by mutations in the ATM ( Ataxia Telangiectasia Mutated ) gene which was cloned in 1995.
This test for the most common hereditary types of Ataxia which include, Fredriech's Ataxia, SCA 1, 3, 8 and a few more.
Ataxia and are
Pes cavus is sometimes — but not always — connected through Hereditary Motor and Sensory Neuropathy Type 1 ( Charcot-Marie-Tooth disease ) and Friedreich's Ataxia ; many other cases of pes cavus are natural.
An estimated 150, 000 people in the United States are diagnosed with Ataxia, SCA's are the largest group of this hereditary, progressive, degenerative and often fatal neurodegenerative disorders.
Ataxia and disease
The causes of dysarthria can be many, including toxic, metabolic, degenerative diseases ( such as Parkinsonism, ALS, Huntington's Disease, Niemann Pick disease, Ataxia etc.
The genetic conditions Ataxia Telangiectasia and Niemann Pick disease Type C, as well as cerebellar essential tremor, involve the progressive loss of Purkinje cells.
Ataxia and .
Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum.
Ataxia can be induced as a result of severe acute radiation poisoning with an absorbed dose of more than 30 Grays.
The International Cooperative Ataxia Rating Scale ( ICARS ) is one of the most widely used and has been proven to have very high reliability and validity.
* Episodic Ataxia ( EA ), characterized by sporadic bouts of severe discoordination with or without myokymia, and can be provoked by stress, startle, or heavy exertion such as exercise.
He has also appeared on fellow DC post-punkers Decahedron's debut album Disconnection_Imminent, as well as on a one shot project with John Frusciante ( formerly ) of the Red Hot Chili Peppers and current Red Hot Chili Peppers guitarist, Josh Klinghoffer known as Ataxia.
Numerous advocacy groups such as the National Organization for Rare Disorders, Global Genes Project, Children's Rare Disease Network, Abetalipoproteinemia Collaboration Foundation, Zellweger Baby Support Network, and the Friedreich's Ataxia Research Alliance have been founded in order to advocate on behalf of patients suffering from rare diseases with a particular emphasis on diseases that afflict children.
* Marie-Foix-Alajouanine syndrome, Ataxia of the cerebellum in advanced age, frequently due to abuse of alcohol.
In 1990, Allison helped found the Bob Allison Ataxia Research Center at the University of Minnesota along with his wife Betty, sons Mark, Kirk, and Kyle, and former Twins ' teammates Jim Kaat and Frank Quilici.
** Friedreich Ataxia – GAA ( Note: Friedreich ataxia does not usually exhibit anticipation because it is an autosomal recessive disorder.
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