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Friedreich's ataxia

Friedreich's ataxia is a rare inherited disease that causes progressive nervous system damage and movement problems

Prevalence

1.5-2.5 / 100,000

4,965-8,275

US Estimated

7,703-12,838

Europe Estimated

Age of Onset

ageofonset childhood https://raremedicalnews.com/wp-content/uploads/2024/01/165783-e1747416884218.jpg

ICD-10

G11.1

Inheritance

Autosomal dominant

no https://raremedicalnews.com/wp-content/uploads/2024/01/165783-e1747416884218.jpg

Autosomal recessive

rnn autosomalrecessive https://raremedicalnews.com/wp-content/uploads/2024/01/165783-e1747416884218.jpg

Mitochondrial/Multigenic

no https://raremedicalnews.com/wp-content/uploads/2024/01/165783-e1747416884218.jpg

X-linked dominant

no https://raremedicalnews.com/wp-content/uploads/2024/01/165783-e1747416884218.jpg

X-linked recessive

no https://raremedicalnews.com/wp-content/uploads/2024/01/165783-e1747416884218.jpg

5 Facts you should know

FACT

1

The condition is named after German physician Nikolaus Friedreich, who first described it in the 1860s

FACT

2

Friedreich ataxia, or FRDA, is an autosomal-recessive disorder that affects a gene (FXN) on chromosome 9

FACT

3

Symptoms generally start between 5 and 20 years of age

FACT

4

Many patients develop hypertrophic cardiomyopathy

FACT

5

It is the most common inherited ataxia

Interest over time

Friedreich's ataxia is also known as...

Friedreich's ataxia is also known as:

  • Hereditary spinal sclerosis
  • Hereditary spinal ataxia
  • FA

What’s your Rare IQ?

At what age do symptoms of Friedreich's Ataxia usually begin?

Common signs & symptoms

Gait ataxia

Babinski sign

Dysarthria

Gait imbalance

Hand muscle atrophy

Impaired proprioception

Current treatments

Friedreich's Ataxia Research Alliance (FARA) has clinical care guidelines that document the diagnosis, treatment, and management of Friedreich ataxia.

Drug therapy

Skyclarys (omaveloxolone)

Cardiac care

Physical therapy

Orthopedic interventions