Friedreich ataxia
Friedreich ataxia
Definition
An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.
Also known as FA, FRDA, Friedreich ataxia, Friedreich's Ataxia — per MONDO
Also identified as
- DOID 12705 per MONDO
- ICD10CM G11.11 per MONDO
- ICD9 334.0 per MONDO
- MESH D005621 per MONDO
- NCIT C84718 per MONDO
- Orphanet 95 per MONDO
- SCTID 10394003 per MONDO
- UMLS C0016719 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
Drugs indicated
| Drug | Relation | Source |
|---|---|---|
| Omaveloxolone | may treat | MEDRT · Public domain (U.S. Government work) |