Neuropathy, ataxia, and retinitis pigmentosa
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Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition typically begins in childhood or early adulthood, and the signs and symptoms usually worsen over time. Most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa. This eye disease causes the light-sensing cells of the retina gradually to deteriorate.
Descripción
Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition typically begins in childhood or early adulthood, and the signs and symptoms usually worsen over time. Most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa. This eye disease causes the light-sensing cells of the retina gradually to deteriorate.
Learning disabilities and developmental delays are often seen in children with NARP, and older individuals with this condition may experience a loss of intellectual function (dementia). Other features of NARP include seizures, hearing loss, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). These signs and symptoms vary among affected individuals.
Patrones de herencia
The source lists the following possible inheritance patterns: mitochondrial. More than one pattern can apply in different cases.
Related genes
Otros nombres
NARP
NARP syndrome
Neurogenic muscle weakness, ataxia, and retinitis pigmentosa
Neuropathy, ataxia, and retinitis pigmentos
Related patient information and medicines
Patient information leaflet
Problemas oculares
Macular degeneration The macula is the small area of the retina at the back of your eye and responsible for your central vision. Retinitis pigmentosa Retinitis pigmentosa is the term for several inherited diseases with a gradual deterioration of the light-sensitive cells of the retina. These seem to occur as the brain stops receiving information.
Patient information leaflet
Problemas visuales
Diabetic retinopathy This is damage to the retina caused by the complications of diabetes, particularly where the diabetes has been present for more than ten years and where control has not been good. Retinitis pigmentosa (RP) 'Retinitis pigmentosa' is the term for several inherited diseases which cause a gradual deterioration of the.
Patient information leaflet
Neuropatía periférica
Peripheral neuropathy means damage to one or more of your peripheral nerves. Inflammatory conditions Conditions including sarcoidosis and coeliac disease can also cause peripheral neuropathy. Two of the most common of these are Charcot-Marie-Tooth syndrome and Friedreich's ataxia. Idiopathic peripheral neuropathy In a few people, no specific cause.
Patient information leaflet
Síndrome de Charles Bonnet
Charles Bonnet syndrome is a common condition experienced by people who are losing, or have lost, their sight. It involves see... Charles Bonnet syndrome causes The main cause of the symptoms of CBS is loss of vision. The loss of visión may be caused by retinitis pigmentosa, Stargardt's disease or any other accident or disease which can affect the.
Patient information leaflet
Enfermedad celíaca
(For this reason it is someti... Unexplained peripheral neuropathy , which could be gluten neuropathy. Unexplained ataxia, that could be gluten ataxia. Gluten-related neurological conditions Some rare conditions of the brain and nervous system are slightly more common in people with coeliac disease, such as the following: Gluten ataxia - a brain.
Patient information leaflet
Uveítis
This consists of the iris, ciliary body and choroid - although uveitis can additionally involve other parts of the eye. The ciliary body : a small ring-like muscle that sits behind your iris and which helps the eye to focus. It can affect the choroid, the head of the optic nerve, and the retina (or any combination of these structures). It includes.
Lecturas adicionales y referencias
- Neuropathy, ataxia, and retinitis pigmentosa; MedlinePlus, National Library of Medicine.
- Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1173/
- Chowers I, Lerman-Sagie T, Elpeleg ON, Shaag A, Merin S. Cone and rod dysfunction in the NARP syndrome. Br J Ophthalmol. 1999 Feb;83(2):190-3. doi: 10.1136/bjo.83.2.190.
- Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.
- Rojo A, Campos Y, Sanchez JM, Bonaventura I, Aguilar M, Garcia A, Gonzalez L, Rey MJ, Arenas J, Olive M, Ferrer I. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study. Acta Neuropathol. 2006 Jun;111(6):610-6. doi: 10.1007/s00401-006-0040-5. Epub 2006 Mar 9.
- Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16.
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