Friedreich's ataxia

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Definition

Noun: A rare, inherited, progressive neurological disease that primarily affects the nervous system and movement. It is characterized by the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms typically include poor coordination, gait disturbance, speech problems, and heart disease.

Usage

Friedreich's ataxia is used as a medical term to name a specific genetic disorder. - The patient was diagnosed with Friedreich's ataxia in adolescence. - Research into Friedreich's ataxia focuses on slowing disease progression.

Advanced Usage
  • Clinical Context: The term is used precisely in neurology and genetics to describe the condition's pathology, which involves the degeneration of specific spinal cord tracts (the posterior and lateral columns).
    • The MRI findings were consistent with Friedreich's ataxia.
Variants and Related Words
  • FA: A common abbreviation for Friedreich's ataxia.
    • The FA patient registry helps connect families with researchers.
  • Ataxia: A broader term for a lack of muscle control or coordination, of which Friedreich's ataxia is one specific type.
    • The neurologist needed to determine if the ataxia was cerebellar or spinal in origin.
Synonyms
  • Hereditary spinal ataxia: A descriptive synonym emphasizing its inherited nature and location in the spinal cord.
  • Spinocerebellar degeneration: A broader category of disorders that includes conditions like Friedreich's ataxia.
Related Phrases
  • Friedreich's ataxia gene (FXN gene): Refers to the specific gene, which contains a GAA triplet repeat expansion, responsible for the condition.
    • Genetic testing confirmed a mutation in the Friedreich's ataxia gene.
Noun
  1. sclerosis of the posterior and lateral columns of the spinal cord; characterized by muscular weakness and abnormal gait; occurs in children

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