Genetic Disorders

Genetic Disorders

Genetic Disorders
Genetic disorders are caused by inherited genetic traits or as a result of chromosomal abnormalities. Mutations can be random or caused by an environmental exposure. Screening for genetic disorders can occur before conception (testing parents for certain markers) and at birth.

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    Currently there are no highly effective mitochondrial disease treatments. Though related symptoms, such as seizures or attention problems can be managed with various medications, the mitochondrial disease itself is unchanged. Unfortunately, supplements such as CoQ10 and L-Carnitine have little to no effect on most patients.

    In 2009, FDA approval occurred for an EID (Emergency Intervention Drug) to treat a mitochondrial disease with the new drug from Edison Pharmaceuticals, EPI-743. This represents the first steps toward viable treatments and hopefully, the beginning of many more near-term advancements in mitochondrial medicine research. 
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    Mitochondrial disease can appear at any age. For some it appears at birth. For others it develops over time. We’re learning it’s not at all rare but, due to a lack of physician and public awareness, mitochondrial disease is not often diagnosed. Only in the past 10 years, with advances in genetics and molecular biology, do doctors have a better understanding of the complexity in mitochondrial disorders. Even so, the definitive cause (or causes) of mitochondrial disease continues to evolve. According to the Centers for Disease Control (CDC):
    • One in 2,500-3,000 people is affected by mitochondrial disease.
    • One in 2,500 is affected by cystic fibrosis.
    • One in 110 is affected by autism.
    • One in 500 is affected by Parkinson’s.
    • One in 85 is affected by Alzheimer’s.
    • One in 50,000 are affected by Leigh’s disease, a fatal form of mitochondrial disease.
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    On a day-to-day basis, neurofibromatosis does not require much of your attention. However, if you are undergoing radiation therapy to shrink your tumors, you may need to cope with side effects. Overall, it's best to keep a watchful eye on your neurofibromatosis. If you have type 1 neurofibromatosis, monitor your tumors and alert your doctor if anything drastically changes. If you have type 2 neurofibromatosis, monitor your hearing and balance; contact your doctor if you notice anything new and different in your symptoms.

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    The life expectancy for someone with Fabry disease is lower than average; however, the specific age of death differs based upon the speed of disease progression and the timing of beginning enzyme replacement therapy.  Without treatment, men and women with Fabry disease tend to develop life-threatening ailments like strokes, heart, and kidney disease earlier in life than average.  Beginning enzyme replacement therapy before permanent organ damage can reduce and sometimes halt disease progression.

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    Lipid storage diseases are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. They can be inherited two ways:

    Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent is affected by the disorder. Each child born to these parents has a 25 percent chance of inheriting both copies of the defective gene, a 50 percent chance of being a carrier, and a 25 percent chance of not inheriting either copy of the defective gene. Children of either gender can be affected by an autosomal recessive pattern of inheritance. X-linked (or sex-linked) recessive inheritance occurs when the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son. Sons of carriers have a 50 percent chance of inheriting the disorder. Daughters have a 50 percent chance of inheriting the X-linked chromosome but usually are not severely affected by the disorder. Affected men do not pass the disorder to their sons but their daughters are carriers for the disorder.

    This information is based on source information from the National Institute of Neurological Disorders and Stroke.
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    Doctors clinically diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development and by conducting ongoing evaluations of the child's physical and neurological status. Scientists have developed a genetic test to complement the clinical diagnosis, which involves searching for the methyl CpG binding protein 2 (MECP2) mutation on the child's X chromosome.

    A physician will use a highly specific set of guidelines that are divided into three types of clinical criteria: essential, supportive, and exclusion. The presence of any of the exclusion criteria negates a diagnosis of classic Rett syndrome.

    Supportive criteria are not required for a diagnosis of Rett syndrome but may occur in some individuals. In addition, these symptoms-which vary in severity from child to child-may not be observed in very young girls but may develop with age. A child with supportive criteria but none of the essential criteria does not have Rett syndrome. Supportive criteria include breathing difficulties, electroencephalogram (EEG) abnormalities, seizures, muscle rigidity, spasticity and/or joint contractures that worsen with age, scoliosis, teeth grinding, small hands and feet in relation to height, growth retardation, decreased body fat and muscle mass (although there may be a tendency toward obesity in some affected adults), abnormal sleep patterns, irritability or agitation, chewing and/or swallowing difficulties, poor circulation of the lower extremities with cold and bluish-red feet and legs, decreased mobility with age, and constipation.

    In addition to the essential diagnostic criteria, a number of specific conditions enable physicians to rule out a diagnosis of Rett syndrome. These are referred to as exclusion criteria. Children with any one of the following criteria do not have Rett syndrome-enlargement of body organs or other signs of storage disease, vision loss due to a retinal disorder or optic atrophy, abnormally small head at birth (microcephaly), an identifiable metabolic disorder or other inherited degenerative disorder, an acquired neurological disorder resulting from severe infection or head trauma, evidence of growth retardation in utero, or evidence of brain damage acquired after birth.

    This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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    Rett syndrome affects motor skills, so the child has a limited ability or even a complete inability to eat, walk, bathe, dress, or use the bathroom by themselves. A person with Rett syndrome requires nearly constant care. Many times, this care is provided by parents in the home with occasional outside help from extended family members or health care providers. It may be necessary for your child to participate in physical and speech therapy to help them adapt to the limits placed on them by the disorder. The continual nature of this type of care can be trying for a family. Connecting with other families in the same situation, getting help from outside sources, and utilizing alternative caregivers to get a break from the situation may be helpful ways to cope.

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    Today, the answer is no. In nearly all cases, a spontaneous mutation of the MECP2 gene causes Rett syndrome. Because there is no apparent cause for this mutation, there is no known way to prevent it. Prevention is not possible currently, but research is ongoing.

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    The prognosis for individuals with hereditary neuropathies depends on the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. Genetic counseling is important to understand the details about the disease and the prognosis.

    This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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    The treatment for cerebro-oculo-facio-skeletal syndrome (COFS) is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.

    This answer is based on source information from the National Institute of Neurological Disorders and Stroke.