What is Wieacker Syndrome?
Wieacker Syndrome is an extremely rare pathological genetic condition which is gradually progressive and is characterized by various malformation of the articulation of the lower extremity , specifically joint contractures , gradual degeneration of the muscular tissue , and in some eccentric cerebral abnormalities .
involve somebody with Wieacker Syndrome also tend to have trouble with drive of certain muscles to admit the muscles of the heart , face , and tongue .
Wieacker Syndrome is triggered by mutation in gene ZC4H2 which is passing vital for the development of the nervous organization in the embryonic leg of development of a nestling .
This condition follow an autosomal recessionary pattern of hereditary pattern mean that two copies of the wrong factor one from each parent is substantive for the development of Wieacker Syndrome .
What are the Causes of Wieacker Syndrome?
As stated , Wieacker Syndrome is caused due to mutation of ZC4H2 cistron which is an ten - linked disorder . This gene is extremely critical for the exploitation of central and peripheral nervous system during the embryonal stage of the maturation of the foetus . This condition be an autosomal recessionary rule of heritage imply that two copies of the incorrect gene one from each parent is essential for the development of Wieacker Syndrome .
What are the Symptoms of Wieacker Syndrome?
muscleman devolution and joint contractures of the lower extremities are the primary presenting features of Wieacker Syndrome . The condition progresses step by step top to muscle atrophy of some of the musculus of the helping hand and peg .
Intellectual disability is also noted in some cases of Wieacker Syndrome . Certain ocular abnormality like inability to move the centre altogether as a solution of muscle decadency of the eyes is yet another symptom of Wieacker Syndrome . The affected individual may also have ptosis and strabismus as a result of Wieacker Syndrome .
Also , as a result of degeneration of the muscles of the face and tongue the affected somebody may also find it difficult to move their human face and natural language appropriately in Wieacker Syndrome . Kyphoscoliosisis yet another symptom which is seen in soul with Wieacker Syndrome .
How is Wieacker Syndrome Treated?
There is no cure for Wieacker Syndrome as of yet and the treatment is strictly supportive and symptomatic . This is because there is very little known information in the literature about this diagnosing .
surgical procedure may be of some help to even up certain deformities of the foot and hands and also to chasten kyphoscoliosis to some stage in individuals with Wieacker Syndrome .
words and occupational therapy is quite beneficial in patients who have intellectual disabilities as a result of Wieacker Syndrome . It should be noted here that the hazard of better improvement is figure in those casing where the discourse is started at the earliest possible time for Wieacker Syndrome .
