what is hereditary spastic paraplegia
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A to Z List of Neurological Disorders Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs.Early in the disease course, there may be mild gait difficulties and stiffness.ereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs.
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- Spinal Muscular Atrophy. Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease.
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spastic paralysis spastic paralysis, form of paralysis in which the part of the nervous system that controls coordinated movement of the voluntary muscles is disabled.ongenital spastic paralysis, or cerebral palsy, is often a result of intrauterine disease or birth injury, or occasionally some inherited nervous system defect. The Columbia Electronic Encyclopedia, 6th ed.
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Hereditary myopathy with early respiratory failure Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing.MERF also causes severe weakness in muscles of the chest that are involved in breathing, particularly the diaphragm. This weakness leads to breathing problems and life-threatening respiratory failure.
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- Huntington’s Disease: a hereditary disease with progressive brain-cell degeneration, causing spasmodic body movements and progressive dementia. (Oxford) Characterized by the progressive loss of brain and muscle function.Symptoms usually begin during middle age.ay-Sachs Disease: rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. (GHR) A life-threatening disease of the nervous system passed down through families.The disease occurs when the body lacks a protein that helps break down a chemical found in nerve tissue.
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Hereditary pancreatitis Hereditary pancreatitis. Hereditary pancreatitis (HP) is an inflammation of the pancreas, attributed to genetic causes. It was first described in 1952 by Comfort and Steinberg but it was not until 1996 that Whitcomb et al isolated the first responsible mutation in the trypsinogen gene (PRSS1) on the long arm of chromosome seven (7q35).
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Hereditary Pancreatitis Hereditary Pancreatitis Hereditary Pancreatitis (HP) is a rare genetic condition characterized by recurrent episodes of pancreatic attacks, which can progress to chronic pancreatitis. Symptoms include abdominal pain, nausea, and vomiting. Onset of attacks typically occurs between within the first two decades of life, but can begin at any age. In the United States, it is estimated that at least 1,000 individuals are affected with hereditary pancreatitis. HP has also been linked to an increased lifetime risk of pancreatic cancer.
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Spasticity In this article. Spasticity is a muscle control disorder that is characterized by tight or stiff muscles and an inability to control those muscles. In addition, reflexes may persist for too long and may be too strong (hyperactive reflexes).n this article. Spasticity is a muscle control disorder that is characterized by tight or stiff muscles and an inability to control those muscles. In addition, reflexes may persist for too long and may be too strong (hyperactive reflexes).
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Hereditary Pancreatitis Hereditary Pancreatitis (HP) is a rare genetic condition characterized by recurrent episodes of pancreatic attacks, which can progress to chronic pancreatitis. Symptoms include abdominal pain, nausea, and vomiting. Onset of attacks typically occurs between within the first two decades of life, but can begin at any age.
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Diplegic Cerebral Palsy Diplegic cerebral palsy (CP), also known as spastic diplegia, is a form of cerebral palsy marked by tense muscles and spasms.Leg muscles in particular tend to be extremely tight, and over time, this causes joints to stiffen, reducing the range of motion.iplegic cerebral palsy (CP), also known as spastic diplegia, is a form of cerebral palsy marked by tense muscles and spasms.
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- Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene, and some forms are known to cause pancreatitis. Symptoms of hereditary pancreatitis may begin as early as childhood and may present as an isolated symptom or as part of a rare genetic syndrome. Hereditary pancreatitis can be inherited in a number of ways, depending on the gene(s) involved. One common cause of hereditary pancreatitis involves mutations in the PRSS1 gene.1,3 PRSS1 codes for an enzyme called cationic trypsinogen, which aids in digestion.
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- No, polymyalgia is not hereditary. Polymyalgia is a type of the  rheumatic disorder that is associated with moderate to severe  musculoskeletal pain and stiffness in the hip … area, shoulder and  the neck.3 people found this useful.he term is often used interchangeably with sociopathy. It is estimated that … only 1% of the general population are psychopaths. A psychopath is defined by criminal, sexual, or aggressive impulses and the inability to learn from past mistakes.
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- Gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis. Gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis.
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Hereditary pancreatitis Hereditary pancreatitis: Introduction. Hereditary pancreatitis: A rare inherited condition involving recurring bouts of pancreatitis (inflammation of the pancreas) often leading to chronic pancreatitis due to scarring of the pancreas. More detailed information about the symptoms, causes, and treatments of Hereditary pancreatitis is available below.
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tetraplegia tetraplegia, paralysis of the arms, legs, and trunk of the body below the level of an associated injury to the spinal cord. This disorder is usually caused by spinal cord injury, especially in the area of the fifth to the seventh vertebrae.Automobile accidents and sporting mishaps are common causes.aralysis of the arms, legs, and trunk of the body below the level of an associated injury to the spinal cord. This disorder is usually caused by spinal cord injury, especially in the area of the fifth to the seventh vertebrae. Automobile accidents and sporting mishaps are common causes.
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Spinal muscular atrophy Spinal muscular atrophy has an autosomal recessive pattern of inheritance. Spinal muscular atrophy is linked to a genetic mutation in the SMN1 gene. Human chromosome 5 contains two nearly identical genes at location 5q13: a telomeric copy SMN1 and a centromeric copy SMN2.pinal muscular atrophy is linked to a genetic mutation in the SMN1 gene. Human chromosome 5 contains two nearly identical genes at location 5q13: a telomeric copy SMN1 and a centromeric copy SMN2.
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- Fragile X syndrome is an inherited genetic disease that causes intellectual and developmental disabilities. Inherited means that the disease is passed down from parents to children through their genes. Fragile X syndrome is the most common hereditary source of mental disability in boys. People with fragile X syndrome usually experience a range of developmental and learning problems. The disease is a life-long condition.
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Hereditary Sensory and Autonomic Neuropathy Type IV Hereditary sensory and autonomic neuropathy type IV (HSAN4 or HSAN IV) is a rare genetic disorder that usually begins in infancy and is characterized by an inability to feel pain and an inability to sweat (anhidrosis).Affected individuals also cannot feel temperature and cannot distinguish between hot and cold.ntroduction. The hereditary sensory and autonomic neuropathies (HSAN), also known as the hereditary sensory neuropathies, include at least six similar, but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet.
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Spastic paraplegia 4 Summary Summary. Spastic paraplegia 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) inherited in an autosomal dominant manner. Disease onset ranges from infancy to older adulthood. SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body.
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A to Z List of Neurological Disorders Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal.
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Overview Autosomal recessive ataxias. These include: Friedreich's ataxia. This, the most common hereditary ataxia, involves damage to your cerebellum, spinal cord and peripheral nerves. Peripheral nerves carry signals from your brain and spinal cord to your muscles. In most cases, signs and symptoms appear before the age of 25.
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- Compulsory voting is a system in which voters are obliged to vote in elections or attend a polling place on voting day. If an eligible voter does not attend a polling place, or lodge a postal vote, he or she may be subject to a penalty such as fines or community service. As of August 2013, 22 countries, including 12 Latin American countries, have laws for compulsory voting, and 11 of these 22 countries enforce these laws in practice.
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Spinal Muscular Atrophy Spinal Muscular Atrophy What is spinal muscular atrophy? Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease.
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Genetic disorders Achondroplasia is an autosomal dominant genetic disorder of bone growth. It affects 1 in 25,000 live births and occurs equally in both sexes and all races. Affected individuals have short arms and legs with a normal torso size. The head is usually large, sometimes due to hydrocephalus, and the forehead is prominent.chondroplasia is an autosomal dominant genetic disorder of bone growth. It affects 1 in 25,000 live births and occurs equally in both sexes and all races. Affected individuals have short arms and legs with a normal torso size. The head is usually large, sometimes due to hydrocephalus, and the forehead is prominent.
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About SMA SMA (spinal muscular atrophy) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. It is the number one genetic cause of death for infants. SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.