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insensitivity to pain: Modify as much as reasonable a child's activities to prevent injuries. Inability to provide proper immobilization as a treatment for orthopedic injuries often delays healing; additionally, bracing and invasive orthopedic procedures increase the risk for infection. Methods used to prevent injuries to the lips, buccal mucosa, tongue, and teeth include tooth extraction, and/or filing (smoothing) of the sharp incisal edges of teeth, and/or use of a mouth guard. Skin care with moisturizers can help prevent palmar and plantar hyperkeratosis and cracking and secondary risk of infection; neurotrophic keratitis is best treated with routine care for dry eyes, prevention of corneal infection, and daily observation of the ocular surface. Interventions for behavioral, developmental and motor delays, as well as educational and social support for school-age children and adolescents, are recommended.
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Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.
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absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.
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receptors, which are found on the surface of neurons. Binding of the NGFβ protein to its receptor transmits signals to the cell to grow and to mature and take on specialized functions (differentiate). This binding also blocks signals in the cell that initiate the process of self-destruction (apoptosis). Additionally, NGFβ signaling plays a role in pain sensation. Mutation of the NGF gene leads to the production of a protein that cannot bind to the receptor and does not transmit signals properly. Without the proper signaling, sensory neurons die and pain sensation is altered, resulting in the inability of people with HSAN5 to feel pain.
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may not seek treatment right away. Without treatment, the ulcers can become infected and may lead to amputation of the affected area. Unintentional self-injury is common in people with HSAN2, typically by biting the tongue, lips, or fingers. These injuries may lead to spontaneous amputation of the affected areas. Affected individuals often have injuries and fractures in their hands, feet, limbs, and joints that go untreated because of the inability to feel pain. Repeated injury can lead to a condition called
Charcot joints, in which the bones and tissue surrounding joints are destroyed.
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517:) gene are associated HSAN6. In two separate studies of families with presentations of HSAN6, the DST gene was found to be mutated, in one case with a truncating mutation, and in the other a non-sense or missense mutation. In the latter case, the authors proposed that homozygous truncating mutations result in a severe form of HSAN6, with congenital defects and early lethality, while heterozygosity for a truncating or missense mutation maintains enough dystosin expression and function to allow a normal lifespan, albeit with symptoms of HSAN6.
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development, poor temperature and motor incoordination are seen in early childhood. Other features include reduced or absent tears, depressed deep tendon reflexes, absent corneal reflex, postural hypotension and relative indifference to pain. Scoliosis is frequent. Intelligence remains normal. Many patients die in infancy and childhood. Lack of flare with intradermal histamine is seen. Histopathology of peripheral nerve shows reduced number of myelinated and non-myelinated axons. The catecholamine endings are absent.
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covering that protects nerves and promotes the efficient transmission of nerve impulses. A decrease in sphingolipids disrupts the formation of myelin, causing nerve cells to become less efficient and eventually die. When sphingolipids are not made, an accumulation of toxic byproducts can also lead to nerve cell death. This gradual destruction of nerve cells results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type 1.
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pain, temperature, and touch (sensory neurons). The mutations involved in HSAN2A result in an abnormally short WNK1/HSN2 protein. Although the function of this protein is unknown, it is likely that the abnormally short version cannot function properly. People with HSAN2A have a reduction in the number of sensory neurons; however, the role that WNK1/HSN2 mutations play in that loss is unclear.
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pain, minor injuries in this area may not be immediately recognized and may develop into extensive ulcerations. Once infection occurs, further complications such as progressive destruction of underlying bones may follow and may necessitate amputation. In rare cases, the disease is accompanied with nerve deafness and muscle wasting. Autonomic disturbance, if present, appears as
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normal IKAP protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of the protein, and other cells—particularly brain cells—have very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of IKAP protein, leading to the signs and symptoms of familial dysautonomia.
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dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay.
533:, are generated at the ends of the neuron to carry the discardable material, and they are then transported toward center. With the intracellular transport system disrupted by a mutation in DST, the autophagosomes are unable to carry away the debris, which builds up at the ends of the neuron, leading to damage.
314:, a sweating abnormality. Examinations of the nerve structure and function showed signs of neuronal degeneration such as a marked reduction in the number of myelinated fibers and axonal loss. Sensory neurons lose the ability to transmit signals, while motor neurons has reduced ability to transmit signals.
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Hereditary sensory and autonomic neuropathy type 6 (HSAN6), also known as familial dysautonomia with contractures, is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including
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Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is
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The WNK1 gene provides instructions for making multiple versions (isoforms) of the WNK1 protein. HSAN2A is caused by mutations that affect a particular isoform called the WNK1/HSN2 protein. This protein is found in the cells of the nervous system, including nerve cells that transmit the sensations of
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There are two types of HSAN2, called HSAN2A and HSAN2B, each caused by mutations in a different gene. HSAN2A is caused by mutations in the WNK1 gene, and HSAN2B is caused by mutations in the RETREG1 gene (FAM134B). Although two different genes are involved, the signs and symptoms of HSAN2A and HSAN2B
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The first sign of HSAN2 is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. People with HSAN2 often develop open sores (ulcers) on their hands and feet. Because affected individuals cannot feel the pain of these sores, they
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Prevention of secondary complications: Regular dental examinations and restriction of sweets to prevent dental caries; early treatment of dental caries and periodontal disease to prevent osteomyelitis of the mandible. During and following surgical procedures, potential complications to identify and
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SPTLC1 gene mutations reduce the amount of SPTLC1 subunit that is produced and result in an SPT enzyme with decreased function. A lack of functional SPT enzyme leads to a decrease in sphingolipid production and a harmful buildup of certain byproducts. Sphingolipids are found in myelin, which is the
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Hereditary sensory neuropathy type 1 is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation,
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Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons) which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. In some affected people,
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Affected individuals 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 treatment right away. Without treatment, the ulcers
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Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and
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trait. The disease usually starts during early adolescence or adulthood. The disease is characterized by the loss of pain sensation mainly in the distal parts of the lower limbs; that is, in the parts of the legs farther away from the center of the body. Since the affected individuals cannot feel
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The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the
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Nearly all individuals with familial dysautonomia have two copies of the same IKBKAP gene mutation in each cell. This mutation can disrupt how information in the IKBKAP gene is pieced together to make a blueprint for the production of IKAP protein. As a result of this error, a reduced amount of
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HSAN2B is caused by mutations in the RETREG1 gene. These mutations may lead to an abnormally short and nonfunctional protein. The RETREG1 protein is found in sensory and autonomic neurons. It is involved in the survival of neurons, particularly those that transmit pain signals, which are called
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Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type 1. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important
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Type 4, congenital insensitivity to pain with anhidrosis (CIPA), is an autosomal recessive condition and affected infants present with episodes of hyperthermia unrelated to environmental temperature, anhidrosis and insensitivity to pain. Palmar skin is thickened and charcot joints are commonly
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Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems.
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Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGFβ) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGFβ protein functions by attaching (binding) to its
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Hereditary sensory neuropathy type IV (HSN4) is a rare genetic disorder characterized by the loss of sensation (sensory loss), especially in the feet and legs and, less severely, in the hands and forearms. The sensory loss is due to abnormal functioning of small, unmyelinated nerve fibers and
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Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial
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The effects of HSAN2 on the autonomic nervous system are more variable. Some infants with HSAN2 have trouble sucking, which makes it difficult for them to eat. People with HSAN2 may experience episodes in which breathing slows or stops for short periods (apnea); digestive problems such as the
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Type 3, familial dysautonomia (FD) or Riley-Day syndrome, is an autosomal recessive disorder seen predominantly in Jews of eastern
European descent. Patients present with sensory and autonomic disturbances. Newborns have absent or weak suck reflex, hypotonia and hypothermia. Delayed physical
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Treatment of manifestations: Treatment is supportive and is best provided by specialists in pediatrics, orthopedics, dentistry, ophthalmology, and dermatology. For anhidrosis: Monitoring body temperature helps to institute timely measures to prevent/manage hyperthermia or hypothermia. For
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but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older, but this varies widely within families.
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Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.
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The signs and symptoms of hereditary sensory neuropathy type 1 typically appear during a person's teens or twenties. While the features of this disorder tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.
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inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called
Charcot joints, in which the bones and tissue surrounding joints are destroyed.
355:), is characterized by onset of symptoms in early infancy or childhood. Upper & lower extremities are affected with chronic ulcerations and multiple injuries to fingers and feet. Pain sensation is affected predominantly and deep tendon reflexes are reduced.
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body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.
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the condition may also cause mild abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, digestion, and breathing. The signs and symptoms of HSAN2 typically begin in infancy or early childhood.
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backflow of stomach acids into the esophagus (gastroesophageal reflux); or slow eye blink or gag reflexes. Affected individuals may also have weak deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer.
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portions of the spinal cord that control responses to pain and temperature as well as other involuntary or automatic body processes. Sweating is almost completely absent with this disorder. Intellectual disability is usually present.
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Type 5, congenital insensitivity to pain with partial anhidrosis, also manifests with congenital insensitivity to pain & anhidrosis. There is a selective absence of small myelinated fibers differentiating it from Type IV (CIPA).
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Chen, Ya-Chun; Auer-Grumbach, Michaela; Matsukawa, Shinya; Zitzelsberger, Manuela; Themistocleous, Andreas C.; Strom, Tim M.; Samara, Chrysanthi; Moore, Adrian W.; Cho, Lily Ting-Yin; Young, Gareth T.; Weiss, Caecilia (July 2015).
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integrity and intracellular transport systems, each of which are critical to the normal function of the particularly long neurons found in the peripheral nervous system. It's believed that this disrupts the cell's internal
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shows reduced or absent sensory nerve action potentials and nerve biopsy shows total loss of myelinated fibers and reduced numbers of unmyelinated fibers. It is inherited as an autosomal recessive condition.
298:, ulcero-mutilating neuropathy, hereditary perforating ulcers, familial trophoneurosis, familial syringomyelia, hereditary sensory radicular neuropathy, among others. This type includes a popular disease
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The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells.
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shows motor and sensory nerve action potentials to be normal. The histopathology of peripheral nerve biopsy reveals absent small unmyelinated fibers and mitochondria are abnormally enlarged.
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Eight different clinical entities have been described under hereditary sensory and autonomic neuropathies – all characterized by progressive loss of function that predominantly affects the
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Minde J, Toolanen G, Andersson T, et al. (December 2004). "Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study".
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The loss of neurons leads to the inability to feel pain, temperature, and touch sensations and to the impairment of the autonomic nervous system seen in people with HSAN2.
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labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection.
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Some people with HSAN2 experience a diminished sense of taste due to the loss of a type of taste bud on the tip of the tongue called lingual fungiform papillae.
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Albeit rarely, people with hereditary sensory neuropathy type 1 may develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss).
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process, in which toxic proteins and other normally-occurring debris are captured and transported to the cell center for recycling or destruction. In neurons,
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Ferrier, Andrew; De
Repentigny, Yves; Lynch-Godrei, Anisha; Gibeault, Sabrina; Eid, Walaa; Kuo, Daniel; Zha, Xiaohui; Kothary, Rashmi (2015-06-04).
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1257:"Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates"
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manage promptly include hyper- or hypothermia and inadequate sedation, which may trigger unexpected movement and result in secondary injuries.
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1313:"Hereditary sensory autonomic neuropathy Type VIII: A rare clinical presentation, genomics, diagnosis, and management in an infant"
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nociceptive neurons. When the RETREG1 protein is nonfunctional, neurons die by a process of self-destruction called apoptosis.
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1153:"Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)"
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1096:"Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice"
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https://www.jsaapd.com/abstractArticleContentBrowse/JSAAPD/1/4/3/26394/abstractArticle/Article
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246:) is a condition used to describe any of the types of this disease which inhibit sensation.
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Henry
Houlden; R. H. M. King; A. Hashemi-Nejad; et al. (April 2001). "A novel TRK A (
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1362:"A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception"
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1194:"Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss"
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Type 1 is the most common form among the 5 types of HSAN. Its historical names include
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1071:"OMIM Entry - # 614653 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6"
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GeneReviews/NIH/NCBI/UW entry on
Hereditary Sensory and Autonomic Neuropathy Type II
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Houlden H, Blake J, Reilly MM (October 2004). "Hereditary sensory neuropathies".
1448:) mutation associated with hereditary sensory and autonomic neuropathy type V".
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of the distal phalanges is common and so is neuropathic joint degeneration. The
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GeneReviews/NIH/NCBI/UW entry on
Hereditary Sensory and Autonomic Neuropathy IV
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1494:"Transcriptional regulator PRDM12 is essential for human pain perception"
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can become infected and may require amputation of the surrounding area.
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Einarsdottir E, Carlsson A, Minde J, et al. (February 19, 2004).
994:"Hereditary sensory and autonomic neuropathies: types II, III, and IV"
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GeneReviews/NIH/NCBI/UW entry on
Hereditary Sensory Neuropathy Type I
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components of cell membranes and play a role in many cell functions.
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Genes related to
Hereditary sensory and autonomic neuropathy Type 6:
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Hasanuddin, Shaik; Moghe, Gayatri; Reddy, J. Sharada (2020-07-01).
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Genes related to
Hereditary sensory and autonomic neuropathy Type 5
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Genes related to Hereditary sensory and autonomic neuropathy Type 3
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Genes related to Hereditary sensory and autonomic neuropathy Type 2
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Genes related to Hereditary sensory and autonomic neuropathy Type 1
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Type 2, congenital sensory neuropathy (also historically known as
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Journal of Indian Society of Pedodontics and Preventive Dentistry
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Felicia B Axelrod; Gabrielle Gold-von Simson (October 3, 2007).
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Type 5, Congenital insensitivity to pain with partial anhidrosis
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Management of Hereditary sensory and autonomic neuropathy Type 4
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265:. Their incidence has been estimated to be about 1 in 250,000.
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Lafreniere RG, MacDonald ML, Dube MP, et al. (May 2004).
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Klein, C. J., Botuyan, M. V., Wu, Y.; et al. (Jun 2011).
1044:"Orphanet: Hereditary sensory and autonomic neuropathy type 6"
850:"eMedicine - Autonomic Neuropathy : Article by Cory Toth"
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Mutations in the IKBKAP gene cause familial dysautonomia.
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Houlden H, King R, Blake J, et al. (February 2006).
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Type 4, Congenital insensitivity to pain with anhidrosis
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In particular, it has problems with not using MEDMOS.
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302:(HMSN 2B). that is also named as HSAN sub-type 1C.
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may be too technical for most readers to understand
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275:Hereditary sensory and autonomic neuropathy type I
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1758:Congenital insensitivity to pain with anhidrosis
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64:Learn how and when to remove these messages
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25:Hereditary motor and sensory neuropathy
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940:"Hereditary sensory neuropathy type I"
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332:Type 2, Congenital sensory neuropathy
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300:Charcot-Marie-Tooth type 2B syndrome
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898:10.1097/00019052-200410000-00007
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389:Type 3, Familial dysautonomia
240:hereditary sensory neuropathy
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251:Charcot-Marie-Tooth disease
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141:comply with Knowledge's
23:Not to be confused with
1802:Multiple system atrophy
1776:Orthostatic hypotension
1768:Orthostatic intolerance
16:For the gene HSN2, see
1833:Neurogenetic disorders
1732:Pure autonomic failure
1011:10.1186/1750-1172-2-39
865:Cite journal requires
813:This section is empty.
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513:Mutations in the DST (
1753:Familial dysautonomia
1722:Autonomic dysreflexia
957:10.1186/1750-1172-3-7
663:Familial dysautonomia
595:unknown (OMIM 608088)
395:Familial dysautonomia
296:mal perforant du pied
1727:Autonomic neuropathy
1170:10.1093/brain/awh712
1450:Annals of Neurology
606:(= CMT2B, HMSN IIB)
151:improve the content
1379:10.1093/hmg/ddh096
886:Curr. Opin. Neurol
307:autosomal dominant
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1552:Further reading
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1498:Nature Genetics
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19:
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1717:Dysautonomia
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1403:Muscle Nerve
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1074:
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844:
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149:Please help
140:
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47:Please help
44:
1817:Categories
1741:Hereditary
1654:DiseasesDB
1080:2022-05-02
1053:2024-06-20
1004:(39): 39.
836:References
312:anhidrosis
50:improve it
1518:1546-1718
1339:0970-4388
1120:1554-8627
1100:Autophagy
797:Treatment
758:Diagnosis
690:1q21-q22
656:12p13.33
599:3p24–p22
527:autophagy
451:present.
216:Neurology
211:Specialty
159:July 2017
104:June 2009
56:talk page
1536:26005867
1470:11310631
1431:23764234
1423:15468048
1388:14976160
1347:33004732
1291:15060842
1228:21532572
1179:16364956
1138:26043942
1075:omim.org
1030:17915006
976:18348718
950:(7): 7.
914:28906295
906:15367861
824:May 2022
678:HSAN 4 (
661:HSAN 3 (
643:19p13.2
563:Sub-type
547:Genetics
515:Dystosin
1710:General
1648:D009477
1527:7212047
1478:7888893
1282:1181970
1219:3102765
1129:4590603
1021:2098750
967:2311280
748:PRDM12
745:HSAN 8
738:SCN11A
735:HSAN 7
723:HSAN 6
718:
710:1p13.1
628:unknown
623:unknown
90:Please
1637:616488
1634:615548
1631:614653
1628:608654
1625:256800
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904:
702:HSAN 5
669:IKBKAP
648:HSAN 2
582:SPTLC1
575:HSAN 1
570:Locus
542:Type 8
537:Type 7
269:Type 1
218:
1790:Other
1659:32501
1605:356.2
1474:S2CID
1446:NTRK1
1427:S2CID
1157:Brain
910:S2CID
715:NTRK1
695:TRKA
686:NTRK1
673:9q31
638:DNMT1
614:3q21
610:RAB7A
238:) or
1643:MeSH
1611:OMIM
1600:9-CM
1532:PMID
1514:ISSN
1466:PMID
1419:PMID
1384:PMID
1343:PMID
1335:ISSN
1287:PMID
1242:link
1224:PMID
1175:PMID
1134:PMID
1116:ISSN
1026:PMID
972:PMID
902:PMID
871:help
706:NGFβ
680:CIPA
652:HSN2
567:Gene
559:Type
236:HSAN
18:HSN2
1596:ICD
1522:PMC
1506:doi
1458:doi
1411:doi
1374:doi
1325:doi
1277:PMC
1269:doi
1214:PMC
1206:doi
1165:doi
1161:129
1124:PMC
1108:doi
1016:PMC
1006:doi
962:PMC
952:doi
894:doi
819:.
780:.
727:DST
453:NCV
361:NCV
244:HSN
94:to
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