Because the symptoms and problems caused by birth defects vary, treatments for birth defects also vary. Treatments range from medications and therapies to surgeries and assistive devices.
This information focuses on structural birth defects, their causes, their prevention, and their treatments. Functional/developmental birth defects are addressed more completely in the intellectual and developmental disabilities content and in the condition-specific topics.
For example:
- Steroid medications, such as prednisone, can help people with muscular dystrophy increase muscle strength, ability, and respiratory function and slow the progression of weakness. Physical therapy is also useful for building strength and reducing weakness.
- Infants with cerebral palsy may receive sensory-motor therapy using Velcro-covered "sticky mittens" to help them “snag” and explore objects they are unable to grasp in the hand.1
- Assistive devices include orthopedic braces to help patients with limb defects to walk and cochlear implants for hearing impairment.
- In the Management of Myelomeningocele Study (MOMS), conducted through NICHD’s Maternal-Fetal Surgery Network, researchers tested a surgical procedure to correct a severe form of spina bifida while the fetus was still in the womb. Although the surgery itself carried risks, it greatly reduced health complications for the infants who received it, including greater likelihood of being able to walk without assistance. Visit http://nichd.nih.gov/news/resources/spotlight/pages/021011-spina-bifida-MOMS.aspx for more information.
- Gene therapy approaches, in which a gene that is mutated or missing is replaced by a normal version of the gene, are being tested for a variety of genetic disorders. Some examples of disorders that are being treated successfully with gene therapy include genetic disorders of the immune system, the muscles, and the eyes. Recent NICHD-supported research on Duchenne muscular dystrophy used genome editing techniques to improve leg grip strength in a mouse model by “turning on” a gene for a specific protein used in muscles.2
Visit https://clinicaltrials.gov to search for ongoing trials of gene therapies and other treatments for different birth defects and genetic disorders.
If someone in your family has a birth defect, find support and information through these resources, and discuss treatment options with that individual’s health care providers.
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