Living with NARP syndrome
A condition that mainly affects the nervous system, with nerve problems, poor balance, and vision loss, starting in childhood or early adulthood.
Understanding NARP syndrome
It usually begins in childhood or early adulthood and gets worse over time. Most people have numbness, tingling, or pain in the arms and legs, muscle weakness, and balance and coordination problems. Many have vision loss from retina changes. Children may have learning disabilities and developmental delays. Seizures, hearing loss, and heart rhythm changes can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Numbness, tingling, or pain in the limbs (sensory neuropathy)
- Poor balance and coordination (ataxia)
- Vision loss
- Eye movements that can't be controlled (nystagmus)
- Delayed development
- Hearing loss
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in MT-ATP6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association, Epilepsy Foundation and United Mitochondrial Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Muscular Dystrophy Association, Epilepsy Foundation, United Mitochondrial Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the MT-ATP6 gene. It is inherited through mitochondrial DNA.
Also known as: narp (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome; neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; neurogenic muscle weakness, ataxia and retinitis pigmentosa; neuropathy-ataxia-retinitis pigmentosa syndrome
Patient organizations
- Muscular Dystrophy AssociationNARP syndrome · United States
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with NARP syndrome.
Explore research for NARP syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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