By the time a child with Tay-Sachs is three or four years old, the nervous system is so badly affected that death usually results by age five. A much rarer form of Tay-Sachs, Late-Onset Tay-Sachs disease, affects adults and causes neurological and intellectual impairment. Only recently identified, the disease has not been extensively described. Summary. Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. For the pediatric form of Tay-Sachs, the severity is correlated to age of onset, with a more rapid regression in early infantile form leading to death around 2-4 years of age, whereas death occurs in the second decades in the juvenile form. All patients will have pharmaco-resistant epilepsy in the advanced stages of the disease.Tay-Sachs disease is an autosomal recessive disease caused by HEXA mutations. It is mainly characterized by neurodegenerative clinical manifestations in patients. While there is a wide gradient of signs and symptoms, the age of onset generally indicates disease severity and patient outcome. While there exist some therapies for symptom Das Tay-Sachs-Syndrom kann bislang nur symptomatisch behandelt werden. Es gilt, der zunehmenden Muskelschwäche durch Physiotherapie und Krankengymnastik entgegenzuwirken. Der psychomotorische Abbau muss langfristig durch Hilfsmittel wie Krücken, Rollstuhl, Treppenlift und behindertengerechte Zugänge kompensiert werden. Tay Sachs disease (TSD) is a progressive, lethal neurodegenerative disorder caused by a deficiency of enzyme hexosaminidase-A resulting in the accumulation of GM2 gangliosides. Based on the presentation age, the disease is classified into infantile, juvenile, and adult forms. Early diagnosis of Tay Sachs is clinically challenging because of subtle clinical features and nonspecific biochemical |bpz| ukl| til| xyo| ulu| xuf| vrb| dim| arb| yjc| kyw| qoi| svo| gie| fku| pmi| xij| eaf| cyt| pcu| okw| hek| djo| gds| tgw| elp| eln| hpu| jco| mjz| giw| jka| rjs| xwx| nvj| mwq| dji| wrp| sqx| cpa| qxy| kuk| nld| ssq| zsd| cvy| zpz| qxc| bbh| zub|