Wieacker Syndrome: Causes, Symptoms, Treatment
What is Wieacker Syndrome?
Wieacker Syndrome is an extremely rare pathological genetic condition which is gradually progressive and is characterized by various deformities of the joints of the lower extremities, specifically joint contractures, gradual degeneration of the muscles, and in some cases intellectual abnormalities.
Affected individuals with Wieacker Syndrome also tend to have difficulty with movement of certain muscles to include the muscles of the eyes, face, and tongue.
Wieacker Syndrome is caused by mutation in gene ZC4H2 which is extremely vital for the development of the nervous system in the embryonic stage of development of a child.
This condition follows an autosomal recessive pattern of inheritance meaning that two copies of the faulty gene one from each parent is essential for the development of Wieacker Syndrome.
What are the Causes of Wieacker Syndrome?
As stated, Wieacker Syndrome is caused due to mutation of ZC4H2 gene which is an X-linked disorder. This gene is extremely vital for the development of central and peripheral nervous system during the embryonic stage of the development of the fetus. This condition follows an autosomal recessive pattern of inheritance meaning that two copies of the faulty gene one from each parent is essential for the development of Wieacker Syndrome.
What are the Symptoms of Wieacker Syndrome?
Muscle degeneration and joint contractures of the lower extremities are the primary presenting features of Wieacker Syndrome. The condition progresses gradually leading to muscle atrophy of some of the muscles of the hands and legs.
Intellectual disability is also noted in some cases of Wieacker Syndrome. Certain ocular abnormality like inability to move the eyes completely as a result of muscle degeneration 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 individual may also find it difficult to move their face and tongue appropriately in Wieacker Syndrome. Kyphoscoliosis is yet another symptom which is seen in individuals with Wieacker Syndrome.
How is Wieacker Syndrome Treated?
There is no cure for Wieacker Syndrome as of yet and the treatment is purely supportive and symptomatic. This is because there is very little known information in the literature about this diagnosis.
Surgery may be of some help to correct certain deformities of the foot and hands and also to correct kyphoscoliosis to some degree in individuals with Wieacker Syndrome.
Speech 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 chances of better improvement is seen in those cases where the treatment is started at the earliest possible time for Wieacker Syndrome.