The genes, medically known as your DNA (deoxyribonucleic acid) in your body, play a large role in producing certain substances that are necessary in maintaining normal functions. Genes also help determine your unique physical and personality traits. A change in any of these genes can severely affect your health, appearance and actions. Ehlers-Danlos syndrome, fibrodysplasia ossificans progressiva and Lesch-Nyhan syndrome are strange genetic diseases.
Ehlers-Danlos syndrome
According to MedlinePlus, Ehlers-Danlos syndrome refers to a genetic disorder in which the gene that produces collagen (fibrous tissue necessary for bodily structure and strength) is altered. This results in such abnormal symptoms as double-jointedness (loose joints), the ability to stretch your skin, joint popping or dislocation and very soft skin. Other symptoms of Ehlers-Danlos syndrome include easily damaged, scarred or bruised skin and visual problems.
Unfortunately, there is no cure for this crippling condition. Instead, your doctor can treat each of your symptoms individually. Sometimes, physical therapy and rehabilitation are beneficial to help you strengthen your muscles and bones.
Fibrodysplasia Ossificans Progressiva
The UCSD Children's Hospital says fibrodysplasia ossificans progressiva is a rare disorder in which your body tissues literally turn into bone. Your muscles, certain tissues and joints can all be infiltrated with bone. This disease is autosomal dominant. This means that your child has a 50 percent chance of inheriting this gene if either of his parents carry this gene.
Fibrodysplasia ossificans progressiva's other manifestations include a short big toe that curves (valgus deviation) in newborns, says UCSD Children's Hospital. In children, this disease can lead to back, neck or shoulder protrusions (swellings) that are painful. These swellings typically occur in response to some sort of trauma. Joint stiffness is also another key symptom for this disease; movement may be nearly impossible. The UCSD Children's Hospital says no treatment exists for fibrodysplasia ossificans progressive. Surgery proves useless because it's a form of trauma that results in further abnormal bone growth and tissue swelling.
Lesch-Nyhan Syndrome
The National Institute of Neurological Disorders and Strokes (NINDS) says Lesch-Nyhan syndrome is a childhood genetic disorder in which there's a lack of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme is needed to break down uric acid in your body. Without it, uric acid builds up and your child develops such symptoms as gout (joint pain especially of the big toe), mild mental retardation, kidney stones and poor muscle control. Another interesting feature is that Lesch-Nyhan syndrome leads to self-mutilating behaviors. For example, your child may bite his lip or fingers on purpose. Also, your child may develop such neurological symptoms as repetitive movements of the extremities. Typically, mothers who carry this disease pass this on to their sons. This is referred to as an X-linked disorder.
Again, there is no specific treatment for Lesch-Nyhan syndrome and your doctor will focus on treating your symptoms separately. Medications such as allopurinol or colchicine can treat gout; lithiotripsy (shock-wave treatment) can destroy your kidney stones. Medications such as haloperidol and phenobarbital may be able to treat your child's neurological disorders.
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