Friedreich Ataxia

Friedreich ataxia (FRDA) is a progressive, usually autosomal recessive neurologic disorder caused by biallelic pathogenic variants in FXN. Most affected people have GAA repeat expansions that reduce production of frataxin, a mitochondrial protein. Presentation and rate of change vary; onset can occur in childhood or adulthood.[1]

Coding

• ICD-10-CM (United States): G11.11 — Friedreich ataxia.[2]

Coding systems and payer rules change. Confirm the code and required documentation for the care setting rather than using a code as proof of diagnosis.

Clinical Profile

Early findings often include progressive gait imbalance, limb incoordination, loss of vibration or position sense, weakness, and reduced reflexes. Dysarthria commonly emerges as the condition progresses. Other manifestations can include scoliosis or foot deformity, cardiomyopathy or arrhythmia, glucose intolerance or diabetes, hearing difficulty, optic atrophy, sleep-disordered breathing, bladder symptoms, and dysphagia.[1,3]

FRDA is progressive, but genotype does not precisely predict an individual's onset, communication profile, mobility, cardiac course, or support needs.[1]

Diagnosis

Diagnosis requires compatible clinical findings and molecular confirmation of biallelic pathogenic FXN variants. Testing needs a method that detects the intronic GAA repeat expansion; routine exome sequencing may not detect it reliably. If targeted repeat testing identifies only one pathogenic allele, the genetics team may add sequence and deletion/duplication analysis.[1]

Neurologic examination and genetic testing are complemented by assessment for treatable or safety-relevant manifestations. Baseline evaluation commonly includes cardiology, glucose testing, mobility and activities of daily living, speech, swallowing, hearing, vision, sleep, and mental health.[1,3]

Medical Management

Care is coordinated across neurology and the specialties relevant to the individual. Follow-up addresses neurologic progression, falls and mobility, cardiomyopathy and rhythm disturbance, diabetes risk, scoliosis and foot deformity, hearing and vision, sleep, bladder symptoms, mental health, and participation goals.[1,3]

Omaveloxolone is FDA-approved for FRDA in adults and adolescents aged 16 years and older. It requires prescription-specific safety assessment and laboratory monitoring; it is not appropriate to start, stop, or adjust it from a general reference page.[4]

Physical and occupational therapy may support safe mobility, transfers, positioning, energy conservation, access, and daily activities. Equipment decisions should follow direct assessment and should be revisited as function, fatigue, environments, and priorities change.[1,3]

Communication

Dysarthria can affect rate, loudness, voice quality, precision, and endurance while language and literacy may remain useful communication strengths. Do not infer cognitive or language ability from reduced speech intelligibility.[1,3]

An SLP assessment can document intelligibility across partners and environments, speaking effort, respiratory-phonatory coordination, hearing, literacy, hand access, fatigue, and the person's own communication priorities. Useful supports may include environmental changes, pacing or intelligibility strategies, writing, text-to-speech, amplification, low-tech boards, or a speech-generating system. AAC is considered when speech is not sufficiently reliable, efficient, or comfortable; FRDA alone does not prescribe symbols, touch, switch scanning, or eye gaze.[1,3,5]

Access should be feature-matched through trials. Upper-limb ataxia, weakness, sensory loss, vision, hearing, positioning, and fatigue may affect performance differently across the day. Preserve a low-tech backup and a reliable yes/no signal, and plan for reassessment before access becomes urgent. The general evaluation, funding, trial, and acquisition process is described in AAC Device Acquisition.[5]

Swallowing and Nutrition

Dysphagia can emerge or worsen with progression and may include impaired coordination, weakness, or silent aspiration. Ask about coughing or choking, wet or changed voice after eating, prolonged meals, unexplained weight change, dehydration, and recurrent chest infection. Concern warrants clinical swallowing assessment; instrumental assessment may be needed to evaluate aspiration risk. Diet changes and feeding-tube decisions belong with the person and the treating swallowing, nutrition, gastroenterology, and medical teams.[1,3]

Education, Work, and Participation

Accommodations should address the individual's actual mobility, handwriting or computer access, speech intelligibility, fatigue, hearing, vision, and medical schedule. Allow adequate response time and accessible ways to participate without lowering academic or decision-making expectations solely because speech or movement is slow.

Transition planning may include accessible transportation, emergency communication, workplace or school technology, personal assistance, and review of how the person will communicate during fatigue, illness, or hospitalization.

Urgent Boundaries

Seek urgent medical assessment for new chest pain, fainting, sustained palpitations, marked breathlessness, or other signs of cardiac decompensation. New choking with breathing difficulty, suspected aspiration, repeated apnea, or an abrupt neurologic or functional change also needs prompt medical evaluation. Local emergency guidance takes priority over this page.

Support

• Friedreich's Ataxia Research Alliance
• National Ataxia Foundation
• Clinical Management Guidelines for Friedreich Ataxia

References

1. Bidichandani SI, Delatycki MB, Napierala M, et al. Friedreich Ataxia. GeneReviews. Updated June 26, 2025.
2. Centers for Medicare & Medicaid Services. FY 2026 ICD-10-CM definitions: G11.11 Friedreich ataxia.
3. Corben LA, Collins V, Milne S, et al. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Orphanet Journal of Rare Diseases. 2022;17:415.
4. US Food and Drug Administration. SKYCLARYS (omaveloxolone) prescribing information. 2024.
5. American Speech-Language-Hearing Association. Augmentative and Alternative Communication Practice Portal. Accessed July 21, 2026.