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Doctor insights on: Hereditary Spastic

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What is hereditary spastic paraparesis?

What is hereditary spastic paraparesis?

Rare condition: Progressive leg weakness and spasticity (tightness and catching of leg with flexion), caused by autosomal dominant and recessive or x-linked genetics, with usual slow progression and normal life span. Mri may demonstrate atrophy of brain and/or spinal cord. ...Read more

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Is west syndrome (infantile spasms) hereditary?

Is west syndrome (infantile spasms) hereditary?

Secondarily: Infantile spasms divide broadly into those arising in the context of an identified disorder and those that are not (idiopathic). The spasns themselves are not hereditary, but many of the identified causes can be. See: http://en.Wikipedia.Org/wiki/west_syndrome. ...Read more

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Can u treat hereditary spastic paralegia?

Can u treat hereditary spastic paralegia?

Yes and no: Hereditary spastic diplegia or paraplegia is a slowly progressive stiffening of the legs. Some progress more rapidly and need aggressive therapy and bracing and even surgery. More often it is very slow and can be be dealt with without braces or surgery but with appropriate therapy. There is no cure, but there is good management. ...Read more

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Is west syndrome (infantile spasms) a hereditary condition?

Is west syndrome (infantile spasms) a hereditary condition?

INFANTILE SPASMS:: When combined with specific eeg changes of hypsarhythmia- is called west syndrome. 2 types: cryptogenic: when no cause found, and symptomatic: due to prenatal / natal(during delivery) / postnatal insult/injury. Some genetic linkage has been recently found, x-linked inheritance is seen, some familial cases are found. ...Read more

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Is spastic paralysis curable?

Is spastic paralysis curable?

No: It is possible to reduce the spasticity to a degree with medications, phyiscal therapy, different treatments like Botox injections, and some fancier treatments like implantable pumps to deliver anti spasticity medication. Unfortunately at this date we do not have a "cure" that can reverse paralysis. I hope we will someday. ...Read more

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Paraparisis cause? Its also known as familiar spastic paraplegia?

Paraparisis cause? Its also known as familiar spastic paraplegia?

See below: Paraparesis is a milder form of paraplegia ( which should mean no movement in the lower extremities but is sometimes used synonymously) familial spastic paraplegia is a paraplegia with family history of unknown etiology and is diagnosed when all the other causes have been ruled out. ...Read more

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Is hirschsprung's disease hereditary?

Is hirschsprung's disease hereditary?

Some familial cases: Disease can be familial or develop spontaneously. It is more common in boys than girlls.Approximately 3-5 % of male siblings and 1 percent of female siblings of children with short-segment disease also have the disease.Risk substantially higher (12.4-33%) in siblings of children with total colonic involvement.Eight genomes have been associated with Hirschsprung’s disease.Most cases not familial. ...Read more

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Is ALS hereditary?

Is ALS hereditary?

Can be: Fals - familial is rare, less than 10%. 90% are sporadic sals with unknown cause. There are some generic tests available. ...Read more

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How is familial adenomatous polyposis inherited?

How is familial adenomatous polyposis inherited?

Autosomal dominant: Enter omim in your browser and go to the database of all inherited diseases. Autosomal dominant means that affected individuals have one normal and one abnormal gene copy, the abnormal one dominating to cause disease. An affected person has a 50% chance to pass on the abnormal gene and fap with each pregnancy. ...Read more

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How is familial adenomatous polyposis inherited?

How is familial adenomatous polyposis inherited?

Autosomal Dominant: Fap is inherited in an autosomal dominant fashion. This means that if one parent has the gene, and the other parent doesn't, each child has a 50% chance of receiving the gene for fap. The disease causes hundreds of polyps to form in the colon (see the picture), leading to colon cancer. ...Read more

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What is hereditary non-polyposis colorectal cancer (hnpcc) vs familial adenomatous polyposis (fap)?

What is hereditary non-polyposis colorectal cancer (hnpcc) vs familial adenomatous polyposis (fap)?

Both inherited: In fap presents as colonic polyps ( gardners syn will have other tumors ) , autosomal recessive due to mutations in gate keeper, tumor suppres gene. On the contrary hnpcc or lynch syndrome. Is autosomal dominant, due to dna mismatch in repair, associated with other cancers of stomach, endomet. Ca, ovary, brain, skin etc. ...Read more

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What is the definition of hereditary spastic paraparesis?

What is the definition of hereditary spastic paraparesis?

Hereditary SP: Hsp, is a genetic disorder transmitted as autosomal dominant, meaning one of the parent has the disease in order to pass it to the offspring. It is a progressive spasticity in the legs , may be associated with hypertonic urinary incontinence, seizure, dementia, or peripheral neuropathy. ...Read more

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Whats spastic diplegia?

Whats spastic diplegia?

Using a form of CP: This term is usually reserved for those who suffer from a form of cerebral palsy where the lower extremities (legs) are stiff, jumpy and weak. ...Read more

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Hereditary hemorrhagic telangiectasia (hht). It is a genetic disease?

Hereditary hemorrhagic telangiectasia (hht). It is a genetic disease?

Yes: Hht is a genetic condition that is transmitted in an autosomal dominant fashion (i.e. If a patient has hht, they have an affected parent). Occasionally, a new mutation may cause hht to develop. ...Read more

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Are muscular dystrophy diseases inherited?

Are muscular dystrophy diseases inherited?

Yes, virtually all: Heredity varies from autosomal dominant to recessive and a few sex linked, but these are indeed genetically mediated muscle disorders. ...Read more

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What is the definition of hereditary spastic paraplegia?

Genetic?: Hereditary spastic pareplegia is the name given to a mainly motor disability often in lower extremities slowly progressive with a geographical distribution.The condition often does not cause sensory or bladder problems and all tests including mri, CSF studies B12 levels etc are normal some of these cases have antibodies to htlv 1 viruses in the blood or cerebrospinal fluid. ...Read more

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What is tropical spastic paraparesis?

Disorder of sp cord: A subacute condition with impairment of lower extremity >upper extremity function, sensory abnormalities, bladder functioning and girdling lumbar pain. About 80 % of patients with tsp have antibodies to htlv-1 (not aids virus..Htlv-3) the disorder and similar disorders were described in caribbean patients. ...Read more

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Is facial paralysis hereditary?

FacialPalsy not Here: No it is not hereditary most of the times, except rare genetic condition mekersson rosenthol syndrome. ...Read more

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