ataxia$5605$ - meaning and definition. What is ataxia$5605$
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What (who) is ataxia$5605$ - definition

HUMAN DISEASE
Friedreich ataxia; Friedrich's ataxia; Friedreich's Ataxis; Friedreich's Ataxia; Friedreich’s ataxia; Friedreichs Ataxia; Friedrich ataxia; Freidrich's ataxia; Freidreich's ataxia; Friedrick's ataxia; Freidrick's ataxia; Frederick's ataxia; Frederich's ataxia; Friederich's ataxia; Friederick's ataxia; Freiderick's ataxia; Freiderich's ataxia; Fredrick's ataxia; Fredrich's ataxia; FRDA
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  • alt=Photo of Nikolaus Friedreich

Friedreich's ataxia         
Friedreich's ataxia (FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech that worsens over time. Symptoms generally start between 5 and 20 years of age.
Ataxia–telangiectasia         
  • Ocular telangiectasia in a person with A–T
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  • Comparison of clinical and laboratory features of rare genetic disorders than can be confused with A–T
A RARE, NEURODEGENERATIVE, AUTOSOMAL RECESSIVE HUMAN DISEASE CAUSING SEVERE DISABILITY
Ataxia Telangiectasia; A-T; Boder-Sedgwick syndrome; Louis Bar syndrome; Louis-Bar syndrome; Ataxia telangectasia; Louis–Bar syndrome; Ataxia telangiectasia syndrome; Ataxia telangiectasia; Ataxia-telangiectasia
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.
Non-progressive congenital ataxia         
FORM OF CEREBELLAR ATAXIA WHICH CAN OCCUR WITH OR WITHOUT CEREBELLAR HYPOPLASIA.
Non-progressive congenital cerebellar ataxia; Non progressive ataxia; Non progressive congenital ataxia; Cerebellar ataxia, non-progressive
Non-progressive congenital ataxia (NPCA) is a non-progressive form of cerebellar ataxia which can occur with or without cerebellar hypoplasia.

Wikipedia

Friedreich's ataxia

Friedreich's ataxia (FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech that worsens over time. Symptoms generally start between 5 and 20 years of age. Many develop hypertrophic cardiomyopathy and require a mobility aid such as a cane, walker, or wheelchair in their teens. As the disease progresses, some affected people lose their sight and hearing. Other complications may include scoliosis and diabetes mellitus.

The condition is caused by mutations in the FXN gene on chromosome 9, which makes a protein called frataxin. In FRDA, cells produce less frataxin. Degeneration of nerve tissue in the spinal cord causes the ataxia; particularly affected are the sensory neurons essential for directing muscle movement of the arms and legs through connections with the cerebellum. The spinal cord becomes thinner, and nerve cells lose some myelin sheath.

No effective treatment is known, but several therapies are in trials. FRDA shortens life expectancy due to heart disease, but some people can live into their 60s or older.

FRDA affects one in 50,000 people in the United States and is the most common inherited ataxia. Rates are highest in people of Western European descent. The condition is named after German physician Nikolaus Friedreich, who first described it in the 1860s.