Signs and symptoms vary greatly depending on the gene or genes affected. While some genetic disorders are inherited from the parents, other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations can occur either randomly or due to some environmental exposure.
Signs and Symptoms
Genetic disorders can affect a wide range things from brain development to metabolic processes. The signs and symptoms vary greatly depending on the gene or genes affected. The most common genetic disorders are down syndrome, cystic fibrosis, Huntington’s disease, Duchenne muscular dystrophy, Sickle cell anemia, hemophilia, thalassemia, and fragile X.
What Are Genetic Disorders?
Genetic disorders are inherited medical conditions caused by an abnormality in an individual’s genome. These abnormalities can range from minor to major; from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. While some genetic disorders are inherited from the parents, other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations can occur either randomly or due to some environmental exposure.
Our Approach to Diagnostics and Testing
Revive utilizes research-based diagnostics to evaluate function in specific areas of the brain. Looking at eye movements, motor function, sensory function, cranial nerves, cognitive function, balance, and gait. This information allows us to better understand what areas are affected so we can develop a treatment plan that targets those regions and networks to make them stronger and more efficient. These tests include eye movements, motor function analysis, physical exam, cognitive ability and balance.
- The VGN or testing of eye movement gives us a representation of the function of eye muscles, cranial nerves, brainstem nuclei, cerebellum and cortical regions. By measuring things like gaze stabilization, smooth pursuits, saccades, and optogenetics it helps us to differentiate the areas of weakness.
- Motor function analysis enables us to see the strength, tone, and coordination of the movement of muscle groups so we can better understand the regions and networks of involvement. Networks that are utilized in a movement are the coordination of movement involve the frontal lobes, parietal lobes, and the cerebellum.
- In our office, the physical examination is focused on not only finding definitive signs of functional deficits but also catching the subtle changes which give us greater insight into the physiology and function (these findings are often considered irrelevant or ‘within normal limits’ in most conventional clinical settings).
- Cognitive testing is utilized as a baseline marker to measure and monitor patient outcomes. These quantifiable tests validate results in many different avenues. Our testing encompasses depression screening, anxiety screening, verbal memory, psychomotor speed, processing speed, simple attention, and motor speed.
- Balance test or vestibular testing gives us an insight into the function of networks that are needed for standing, walking, even riding in a car. We look at the three main factors of balance (Vestibular, proprioception, and vision) both together and individually to isolate the areas of involvement.
Our Approach to Care
At Revive we specialize in providing treatment to the neurological regions affecting growth and development. Your treatment can include balance, gait, and eye training; as well as hand-eye coordination, repetitive transcranial magnetic stimulation (rTMS), hyperbaric oxygen, diet, and supplements.
We offer a unique process that is built to maximize time and results. To reach your personal healthcare goals, it is imperative that your physicians and care providers precisely know your individual story and desires. Your individual goals are the focal point of the comprehensive treatment plan which is based off your exam, diagnostics, and lab results.
Beyond the neurological system, there are many factors that can impact the presentation of genetic disorders: the immune system, diet, sleep, and stress (to list a few). By integrating knowledge of the brain and influence of these factors, we are able to be very specific with targeted therapies which create lasting neurological changes. Your treatment plan is designed specifically for you and is not a protocol.
This plan is executed over 10-15 days. Patients see measurable improvement during their time in our office and continue to make gains once they leave. To help ensure success on your journey of healing, we create and define a plan for you when you go home. This plan may include sourcing local specialist for a safe and effective continuum of care. Our goal is to see each patient continue to build upon the initial results they achieved in our office.
Our care is directed to helping drive neuroplastic change and neurological growth. We can’t change the genome a person has but therapies that drive positive epigenetic changes can affect the expression of genes. The earlier the intervention the more success we see in increasing the quality of life.
Research on our treatments
Vestibular therapy is a very powerful tool in the world of neurological rehabilitation. When we look at brain development we see that movement drives brain growth and one of the most important areas for sensing movement is the vestibular system. When we utilize rotational therapy to active the vestibular system, we see an increase in activation to several cortical regions.