(G11) Hereditary ataxia

More details coming soon

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149 554 in individuals diagnosis hereditary ataxia confirmed
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16 151 deaths with diagnosis hereditary ataxia
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11% mortality rate associated with the disease hereditary ataxia

Diagnosis hereditary ataxia is diagnosed Men are 20.27% more likely than Women

89 937

Men receive the diagnosis hereditary ataxia

8 312 (9.2 %)

Died from this diagnosis.

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95
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75
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55
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59 617

Women receive the diagnosis hereditary ataxia

7 839 (13.1 %)

Died from this diagnosis.

Risk Group for the Disease hereditary ataxia - Men aged 45-49 and Women aged 55-59

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In Men diagnosis is most often set at age 0-94
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Less common in men the disease occurs at Age 0-1, 95+Less common in women the disease occurs at Age 0-1, 90-95+
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In Women diagnosis is most often set at age 0-89

Disease Features hereditary ataxia

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Absence or low individual and public risk
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Hereditary ataxia - what does this mean

Hereditary ataxia is a group of inherited neurological disorders characterized by progressive deterioration of the cerebellum and its associated pathways, leading to balance and coordination problems, as well as a wide range of other symptoms. it is caused by genetic mutations that affect the production of proteins needed for the proper functioning of the nervous system.

What happens during the disease - hereditary ataxia

Hereditary ataxia is a neurological disorder caused by degeneration of the cerebellum and the spinal cord, which results in a loss of coordination and balance. this degeneration is caused by genetic mutations that affect the production of proteins that are essential for the normal functioning of the central nervous system. this can lead to a variety of symptoms, such as difficulty walking, poor balance, clumsiness, slurred speech, and difficulty with eye movements.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Physical examination to assess coordination and balance
  • Neurological examination to assess muscle strength and reflexes
  • Brain imaging (CT or MRI) to look for brain or spinal cord abnormalities
  • Genetic testing to identify mutations in genes associated with Hereditary ataxia
  • Blood tests to look for markers of inflammation or infection
  • Electroencephalogram (EEG) to measure electrical activity in the brain
  • Electromyography (EMG) to measure the electrical activity of muscles
  • Lumbar puncture to measure pressure in the brain and spinal cord

Treatment and Medical Assistance

Main goal of the treatment: To reduce symptoms of hereditary ataxia and improve quality of life.
  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Medication to reduce tremors and muscle spasms
  • Vestibular rehabilitation
  • Nutritional counseling
  • Assistive technology
  • Psychological support
  • Exercise and stretching
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24 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Hereditary ataxia - Prevention

Hereditary ataxia is a genetic disorder that is not preventable, however, early diagnosis and intervention can help to reduce the severity of symptoms and improve quality of life. the best way to prevent the onset of symptoms is to seek genetic counseling and testing to identify any potential genetic mutations that may be present. additionally, maintaining a healthy lifestyle, including regular exercise and a balanced diet, can help to reduce the risk of complications associated with ataxia.

Specified forms of the disease

(E79.0) Hyperuricaemia without signs of inflammatory arthritis and tophaceous disease
(E79.1) Lesch-Nyhan syndrome
(E79.8) Other disorders of purine and pyrimidine metabolism
(E79.9) Disorder of purine and pyrimidine metabolism, unspecified