At what age does Friedreich's ataxia (Friedreich's ataxia) typically present?

From the Guidelines

Friedreich ataxia typically presents between 5 to 15 years of age. The age of onset can vary, but according to the most recent evidence from 1, the typical age range for the presentation of Friedreich ataxia is between 5 to 15 years. Some key points to consider about the presentation of Friedreich ataxia include:

• The disease can manifest across a wide age range, from early childhood to adulthood 1.
• Early-onset cases tend to progress more rapidly and have more severe symptoms.
• The timing of presentation relates to the genetic basis of the disease, with larger GAA triplet repeat expansions in the FXN gene generally correlating with earlier onset 1.
• The first symptoms usually include progressive gait and limb ataxia, followed by dysarthria and loss of lower limb reflexes.
• Patients may initially present with scoliosis, foot deformities, or cardiac symptoms before the neurological manifestations become apparent 1. It is essential to recognize Friedreich ataxia early, as this allows for appropriate supportive care, although no disease-modifying treatments are currently approved 1.

From the Research

Presentation of Friedreich Ataxia

• Friedreich ataxia typically presents before the age of 20 years 2
• The disease can be classified into different forms based on the age of onset, including:
  • Classical form: onset in the first or second decade 3
  • Late-onset form: onset between 25-39 years 3
  • Very-late-onset form: onset after 40 years 3
• The age range of patients in various studies includes:
  • 11-19 years 4
  • 9-17 years 5

Variability in Onset Age

• The onset age of Friedreich ataxia can vary significantly, with some patients experiencing symptoms later in life 3
• Misdiagnosis is common, particularly in later-onset forms, due to the absence of characteristic features or the presence of atypical features 3