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Hunter syndrome falls in a mathematical group of lysosomal storage diseases known as mucopolysaccharidoses of which it is also known as mucopolysaccharidosis eccentric II ( MPS II ) . It is a rarified XTC link up recessive disorder that is found exclusively in Male , although sporadic distaff casing are also found . hunting watch syndrome occurs in 1 in 100,000 to 1 in 170,000 male . It is a progressive disorderliness that feign most of the organ and system of rules in the body , including primal nervous system , eyes , ear , respiratory system , peel , liver , irascibility , heart , GI organization , skeletal organization , and joints .
What Is The Life Expectancy Of A Person With Hunter Syndrome?
There are very few studies that have covered the endurance and cause of death of patient with Hunter syndrome . The life anticipation of patients with Hunter syndrome has improved in recent times due to former diagnosis , specialist tutelage , right medical treatment and improvements in multidisciplinary approach . Studies have show that patient with neurologic involvement and cognitive disability have a inadequate life couple . The patients with milder form show longer survival charge per unit . Patients with severe form do not subsist military post 2d decennium of animation and their life story expectancy are in the age group 10 - 20 old age . However , patients with milder form of the disease can live on a normal living and dwell up to the fifth and sixth decade of life . The lifetime expectancy in these patients is in the geezerhood chemical group 20 - 60 eld . The primary cause of death in both the severe and milder form is due to respiratory problem follow by cardiac disease . In respiratory problems , pneumoniais the leading cause of expiry , while in cardiac problems is myocardial infarction.(1 )
Clinical Presentation Of Hunter Syndrome
Hunter syndrome is further classified into two types , namely MPS II character A and MPS II type B. MPS II type A is the terrible configuration of Hunter syndrome whereas MPS II type B is the milder form of the syndrome . The differentiate factor between the two forms is that in case A neurologic involvement is present whereas in type B there is no neurological involvement . Otherwise , most of the other symptoms are similar except the advance in clinical feature of speech of type B is dull than type A. Higher level of unwholesomeness and deathrate is associated with MPS II character A.
The classical clinical demonstration of Hunter syndrome starts at the long time of 2 - 4 year for severe form whereas for milder form it is delayed by 2 years since progression of the disease course is slow in the milder human body . Hunter syndrome typically face with neurological involvement in life-threatening forms . forcible appearing has typical coarse facial feature film with big head and liberal forehead , short neck , myopic stature , blanket nose , flatten bridge , thick lips , enlarge tongue , thick hair and brow , excessive hair increment in the body , protruded abdomen , hepatomegaly , splenomegaly , hernias ( inguinal or umbilical ) , dysostosis building complex , kyphosis , perennial capitulum infection , hearing loss ( conductive , sensorineural or both ) , papilledema , reduced imagination ( especially night visual sensation ) , hydrocephalus , glaucoma , capture , respiratory problem , perennial respiratory pamphlet infections , sore throat , rhinorrhea , fistula contagion , cough , cold , pharynx contagion , snore , sleep apnea , anddysphagia .
Other clinical features includecarpal tunnel syndrome , spinal stricture , heart valve abnormality , myocardial infarct , ventricular hypertrophy , cardiac bankruptcy , joint disfiguration , joint stiffness , stiff gait , spacing between tooth , distorted tooth with thin enamel , enlargement of gum , peel change include pebbled skin appearing , Mongol spot .
Treatment Of Hunter Syndrome
Hunter syndrome is treated after the definitive diagnosis with the avail of pee test and pedigree test . Urine run will show elevated levels of mucopolysaccharide indicate mucopolysacchridoses . parentage test is the definitive test for Hunter syndrome , which will show deficient or very humbled level of iduronate sulfatase enzyme and elevated stratum of heparan sulfate and dermatan sulphate .
The treatment of Hunter syndrome is IV enzyme substitute therapy , which is quite effective for managing physical symptom ; however , the cognitive symptom still run and worsen with time . strong-arm therapy , speech therapyand other habilitation programs assist in improving the quality of life of patients with Hunter syndrome .
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