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What is Segawa Syndrome?
Segawa Syndrome ( SS ) is amovement disorder , which is transmissible in nature and normally come out in early childhood , around the age of 6 to 8 years.1Symptoms of Segawa Syndrome consists of increased muscle tint , Parkinsonian characteristics which are usually wanting after rest or during the morning sentence , and worsens as the Clarence Shepard Day Jr. make it after the affected role undergoes some exertion . Children having Segawa Syndrome are often misdiagnosed as havingcerebral paralysis . Segawa Syndrome is an super rare condition . Females more commonly have this syndrome than males.2Treatment with levodopa is good in Segawa Syndrome .
Segawa Syndrome is also refer to as hereditary progressivedystoniawith diurnal fluctuation , Segawa ’s dystonia , Segawa ’s disease and Dopamine - responsive dystonia ( DRD ) .
Signs & Symptoms of Segawa Syndrome
Segawa Syndrome usually develops in one limb and often in one leg . exacerbate of the dystonia result inclubfoot , which leads to tiptoe walk . When the patient is about 18 years old the symptom of Segawa Syndrome can spread to all the four limbs . After this age , there is slowing of this disease and step by step symptom of Segawa Syndrome get plateaued . Patient can also experience regression in the developmental milepost let in genial as well as motor skills . If treatment for Segawa Syndrome is not started , then affected role fail to boom .
Other than the above symptoms of Segawa Syndrome , the patient also has symptom of Parkinsonism , which can be comparatively mild . Parkinsonism sign in Segawa Syndrome let in bradykinesia ( unhurriedness of movement ) , stiffness , tremors , rigidity , postural unstableness and balance difficulties . About 25 % of the patient role also have hyperreflexia , specially in the legs . These symptom resemble the symptom ofParkinson ’s disease .
Segawa Syndrome patient are relatively free of symptoms in the morning after a respectable night ’s rest ; however , the symptom of Segawa Syndrome become increasingly severe as the daytime shape up . For this intellect Segawa Syndrome is also known as “ reformist hereditary dystonia with diurnal wavering . ” However , there can be some patients with Segawa Syndrome who do not have these diurnal fluctuation ; therefore , this condition is also referred by other names by researchers .
As the patient suffering from Segawa Syndrome has clubfoot and tiptoe walk , there is excessive wear and tear see at the toes of the footwear with very little clothing on the heel . Patients with Segawa Syndrome may also tolerate from low self - regard , eating disorder and lack of vigor . The affected role also has sad facial expressions during childhood period .
Segawa Syndrome patient will have an almost normal hand at the age of 3 to 5 years . Around pre - adolescent , i.e. around the age of 8 to 11 years , patient will have poor script . The script becomes very worse during adolescence and extremely bad during post - teenaged period and the hand continues to worsen as the patient reaches maturity and beyond .
Diagnosis of Segawa Syndrome
Treatment of Segawa Syndrome
handling with levodopa is very effective in patients with Segawa Syndrome.3There is a striking betterment in the symptom of the affected role with Segawa Syndrome with even low-down - dose levodopa . Patient can have almost a complete reversal of the associated symptom of Segawa Syndrome and the effectualness of this treatment is often long term and does not have the complication , which occur with treatment ofParkinson ’s diseaseusing levodopa . Therefore , some researchers believe dopamine - responsive dystonia is an appropriate substitute name for Segawa Syndrome .
As Segawa Syndrome is often misdiagnosed , this status often go untreated and patients commonly need Achilles tendon surgery when they have reached adulthood . Patient has knockout problems with walking , which worsen as the day progresses . Resting or napping gives irregular relief in affected role without right discourse . Segawa Syndrome also hinders growth , affects balance and decreases the heftiness maturation in the calves . Patient also suffers from psychological problems such as depression , low self esteem , eating disorders , deficiency of societal skills , along with difficulty in find employ .
Life Expectancy in Segawa Syndrome
Currently , there is no data available regarding the expiry pace with Segawa Syndrome . With treatment Segawa Syndrome patients have known to live beyond 50 years of age . However , if the Segawa Syndrome patient is digest from severe , early autosomal recessionary case of this disorder then patient tend to pop off during childhood . young lady are more affected with this condition and this syndrome usually begin during puberty or after the patient role has reach out the age 20 . In rare cases , this syndrome can start in older adults also .
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