Rare Endocrinology News
Spotlight On
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
Age of Onset
ICD-10
G11.1
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
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
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)