Neuropathy, ataxia, and retinitis pigmentosa
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) is a rare genetic disorder that affects the nervous system, leading to a combination of neurological symptoms. The condition is characterized by the triad of its namesake symptoms: neuropathy (nerve damage), ataxia (lack of muscle coordination), and retinitis pigmentosa (a group of genetic disorders that affect the retina and cause loss of vision). NARP is caused by mutations in the mitochondrial DNA, specifically in the MT-ATP6 gene, which plays a crucial role in cellular energy production.
Symptoms and Diagnosis[edit | edit source]
The symptoms of NARP can vary widely among individuals, even among members of the same family. The onset of symptoms typically occurs in childhood or early adulthood. The primary symptoms include:
- Neuropathy: This involves tingling, numbness, and pain in the hands and feet due to peripheral nerve damage.
- Ataxia: This manifests as problems with balance and coordination, leading to difficulty walking and performing tasks that require fine motor skills.
- Retinitis Pigmentosa: This condition causes progressive vision loss, starting with decreased night vision and loss of peripheral vision, eventually potentially leading to blindness.
Additional symptoms may include developmental delays, seizures, muscle weakness, hearing loss, and cognitive impairment. Diagnosis of NARP is based on clinical evaluation, family history, and genetic testing to identify mutations in the MT-ATP6 gene.
Genetics[edit | edit source]
NARP is a mitochondrial disorder, meaning it is caused by mutations in mitochondrial DNA (mtDNA). Mitochondria, the energy-producing organelles within cells, have their own DNA, which is inherited exclusively from the mother. The MT-ATP6 gene mutation responsible for NARP affects the ATP synthase protein, disrupting the mitochondria's ability to produce energy efficiently.
Treatment and Management[edit | edit source]
There is currently no cure for NARP, and treatment focuses on managing symptoms and improving quality of life. Management strategies may include:
- Physical therapy to improve mobility and muscle strength
- Vision aids and services to assist with visual impairments
- Medications to control seizures and manage pain
- Regular monitoring and supportive care for associated conditions
Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and risks for future generations.
Prognosis[edit | edit source]
The prognosis for individuals with NARP varies depending on the severity of symptoms and the degree of organ involvement. While some individuals may lead relatively normal lives with mild symptoms, others may experience significant physical and cognitive disabilities. Early intervention and supportive care can help manage symptoms and improve outcomes.
NIH genetic and rare disease info[edit source]
Neuropathy, ataxia, and retinitis pigmentosa is a rare disease.
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD