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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
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
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
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
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
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
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
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
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 moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
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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