Hereditary sensory neuropathy type IA
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
Hereditary sensory neuropathy type IA is a condition characterised by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance.
Descripción
Hereditary sensory neuropathy type IA is a condition characterised by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance.
Individuals with hereditary sensory neuropathy type IA typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek immediate treatment. Without treatment, the ulcers can become infected and may require amputation of the surrounding area or limb.
Some people with hereditary sensory neuropathy type IA develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss typically develops in middle to late adulthood.
The signs and symptoms of hereditary sensory neuropathy type IA can begin anytime between adolescence and late adulthood. While the features of this condition tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Autosomal dominant hereditary sensory radicular neuropathy, type 1A
Hereditary sensory and autonomic neuropathy, type IA
HSAN IA
HSAN1A
HSN IA
HSN1A
Related patient information and medicines
Patient information leaflet
Neuropatía periférica
Peripheral neuropathy means damage to one or more of your peripheral nerves. There are many different conditions that can lead to peripheral neuropathy. Neuropathy can affect any one, or a combination of all three, types of nerves. If sensory nerves are damaged, this is known as sensory neuropathy. It can cause symptoms in affected parts of your.
Patient information leaflet
Trastornos del almacenamiento de glucógeno
However, some glycogen storage disorders can affect other parts of the body such as the kidney, heart, blood vessels, nervous syste... The different types of glycogen storage disorder include: Type Ia (von Gierke's disease), type Ib. Type II (Pompe's disease). Glycogen storage disorders are rare. Autosomal recessive inheritance pattern Most, but.
Patient information leaflet
cáncer de hueso primario
This is a non-cancerous (benign) bone tumour which occ... Certain rare inherited disorders including: Li-Fraumeni syndrome, hereditary multiple exostoses (HME) and hereditary retinoblastoma. Ollier's disease (enchondromatosis) - a rare bone condition. Grading and staging are combined together to assess the severity of a bone cancer. The commonly.
Patient information leaflet
Enfermedad celíaca
Coeliac disease (also spelled celiac disease) mainly affects the part of the gut called the small intestine. It can occur at any age. Coeliac disease is caused by a reaction of the gut to gluten. (For this reason it is sometimes also called gluten-sensitive enteropathy). Gluten is part of certain foods - mainly foods made from wheat, barley and.
Patient information leaflet
Neuropatía diabética
Neuropatía diabética es a type of nerve damage that can occur if you have diabetes. Diabetic neuropathy is a common complication of both type 1 diabetes and type 2 diabetes. The best way to prevent or treat diabetic neuropathy is to keep your blood sugar (glucose) and blood pressure well controlled, to attend regular diabetes checks and to avoid.
Patient information leaflet
Esclerosis múltiple
Relapsing-remitting MS Nearly 9 in 10 people with esclerosis múltiple (EM) have the relapsing-remitting form of the disease. In a relapse, an attack (episode) of symptoms occurs. During a relapse, symptoms develop (described below) and may last for days but usually last for 2-6 weeks. How common is multiple sclerosis. Multiple sclerosis (MS) is the.
Lecturas adicionales y referencias
- Hereditary sensory neuropathy type IA; MedlinePlus, National Library of Medicine.
- Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet. 2001 Mar;27(3):261-2. doi: 10.1038/85817.
- Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001 Mar;27(3):309-12. doi: 10.1038/85879.
- Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006 Feb;129(Pt 2):411-25. doi: 10.1093/brain/awh712. Epub 2005 Dec 19.
- Penno A, Reilly MM, Houlden H, Laura M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH Jr, von Eckardstein A, Hornemann T. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010 Apr 9;285(15):11178-87. doi: 10.1074/jbc.M109.092973. Epub 2010 Jan 22.
- Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Levy N, Timmerman V, Hornemann T, Janssens K. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum Mutat. 2011 Jun;32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.