Genetic Syndromes
Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contains instructions for cell functioning and the characteristics that make you unique.
Symptoms
Symptoms vary depending on the type of disorder, the organs affected, and how severe it is. You may experience Behavioral changes or disturbances., Breathing problems, Cognitive deficits, when the brain can’t process information as it should, Eating and digestive issues, such as difficulty swallowing or an inability to process nutrients. Limb or facial anomalies, which include missing fingers or a cleft lip and palate. Movement disorders due to muscle stiffness or weakness. Neurological issues such as seizures or stroke. Poor growth or short stature. Vision or hearing loss
Diagnosis
If you have a family history of a genetic disorder, you may wish to consider genetic counseling to see if genetic testing is appropriate for you. Lab tests can typically show whether you have gene mutations responsible for that condition. In many cases, carrying the mutation does not always mean you’ll end up with it. Genetic counselors can explain your risk and if there are steps you can take to protect your health.
Treatment
Most genetic disorders do not have a cure. Some have treatments that may slow disease progression or lessen their impact on your life. The type of treatment that’s right for you depends on the type and severity of the disease. With others, we may not have treatment but we can provide medical surveillance to try to catch complications early.
Conditions Treated
- Autism Spectrum Disorder (ASD)
- Attention Deficit / Hyperactive Disorder (ADHD)
- Down’s Syndrome
- Dyslexia
- Cerebral Palsy
- Sensory Process Disorders
- Learning Disability
- Intellectual Disability
- Speech / Language Delay
- Neuro / Motor Developmental Delay
- Global Developmental Delay
- Muscular Dystrophy
- Knee & Foot Deformities
- Generalized Epilepsy / Seizures
- Genetic Syndromes
- Traumatic Brain Injury
- Hypoxic Ischemic Encephalopathy (HIE)
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