What is Fukuhara Syndrome?
Fukuhara Syndrome is an extremely rarefied pathological condition which start out in puerility and affects mainly the uneasy and the skeletal organisation , although other systems of the body may also get affected as a result of Fukuhara Syndrome . The primary presenting feature film of Fukuhara Syndrome is the distinct unvoluntary jerking of the arms and stage and in some cases even the entire body starts didder . Muscle helplessness is yet another symptom that fry with Fukuhara Syndrome tend to have which is a key feature of this condition .
Additionally , children with Fukuhara Syndrome also have impair coordination , ataxia , seizure , and a gradual but reformist declension of their functional skills along with gradual devolution of the optic nerve cause visual damage , hearing deficits , and peripheral neuropathy as a result of Fukuhara Syndrome .
What are the Causes of Fukuhara Syndrome?
The base cause of Fukuhara Syndrome is genetic mutation in mitochondrial DNA . These faulty cistron are usually inherited by the mother of the affected individual and these mutated factor are fall back in the sperm cells and hence can not be inherit by the male parent .
The touched can pass the genes to her children but further inheritance of this condition will only take position through the daughter of the affected female parent and not the Word . Mitochondrial are essential for the human consistency for energy and other important functions that are required for veritable functioning of the human body .
Until and unless the sport outnumber the normal mitochondrial DNAs the affected individual will show no symptoms of Fukuhara Syndrome . The main cistron creditworthy for development of Fukuhara Syndrome is the MT - TK cistron , although de novo mutations have also been responsible for for the evolution of Fukuhara Syndrome .
What are the Symptoms of Fukuhara Syndrome?
The symptom of Fukuhara Syndrome set out to show up in former childhood of the soul , although in some cases symptom may not be plain till adolescence . The symptom of Fukuhara Syndrome are quite variable and members of the same phratry if affected will show unlike symptoms as a result of Fukuhara Syndrome .
The principal symptom of Fukuhara Syndrome is myoclonus or involuntary jerking of the upper and low extremities and in some dangerous cases even the entire body . Seizures , ataxia , muscle weakness and dementia are some of the other symptoms that are commonly view in person with Fukuhara Syndrome .
Additionally , moved individuals are of light stature and lean to have optical nerve degeneration affect visual sensation of the individual along with hearing shortfall and altered aesthesis in some part of the organic structure . Lactic acidosis is a condition which is ordinarily envision in person with Fukuhara Syndrome .
Such people lean to plain of abdominal painfulness , persistent fatigue and job with breathing as a termination of lactic acidosis because of Fukuhara Syndrome .
How is Fukuhara Syndrome Diagnosed?
The front line method for diagnosing of Fukuhara Syndrome is genetic testing done to see mutations in the Mt - TK factor and abnormalities in the mitochondrial DNA . This will more or less confirm the diagnosis of Fukuhara Syndrome . to boot , a laboratory test will reveal increased levels of lactic Lucy in the sky with diamonds which will further cement the diagnosis of this circumstance .
How is Fukuhara Syndrome Treated?
There is no curative for Fukuhara Syndrome but treatment is mainly aimed at treat the symptom triggered by it . Anticonvulsants may be used to ascertain seizure due to Fukuhara Syndrome .
To control the symptoms of myoclonus , levetiracetam has shown to be effective in controlling the involuntary jerking . Treatments may also be given for optic spunk degeneracy and hearing aid may be of benefit for treating audience deficits in individuals with Fukuhara Syndrome .
to boot , physical therapy and exercises direct towards increase the energy level of the patient and slow down the process of the condition has also been quite effective in person with Fukuhara Syndrome .
