What does GAN mean in DISABILITY
Giant axonal neuropathy (GAN) is an inherited neurological disorder which impairs the body's ability to transport substances within and between nerve cells. It is caused by a mutation in the GAN gene, located on chromosome 17q25.3-qter. This gene provides instructions for making a protein called gigaxonin, which plays an essential role in maintaining the normal structure of nerve cells. When this gene is mutated, gigaxonin cannot be made or does not function properly, leading to the death of nerve cells and progressive loss of motor and sensory functions. GAN can cause severe muscle weakness, sensory deficits, speech difficulties, developmental delays, and other neurological problems. As these symptoms worsen over time, most people with GAN are unable to walk or move their arms and legs normally by adulthood.
GAN meaning in Disability in Medical
GAN mostly used in an acronym Disability in Category Medical that means Giant axonal neuropathy
Shorthand: GAN,
Full Form: Giant axonal neuropathy
For more information of "Giant axonal neuropathy", see the section below.
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Symptoms
The symptoms of GAN vary depending on the age when they first appear and their severity. Infants may experience feeding difficulties due to weak muscles in the face or throat; failure to gain weight; enlarged liver or spleen; poor sucking reflex; stiffness in joints due to joint contractures; delayed motor milestones such as rolling over and sitting up; abnormal movements such as writhing or twisting; seizures that start at birth or shortly after; cognitive impairment; decreased tendon reflexes; visual problems such as nystagmus (involuntary eye movements); hearing loss; absence of reflexes in certain areas of the body’s skin like forehead or arm pits known as “tendon lose” syndrome; progressive muscle weakness that begins most commonly in legs but can also affect arms and facial muscles including difficulty speaking clearly.
Diagnosis
GAN is usually diagnosed through genetic testing which uses blood samples from both parents and affected children to analyze for mutations in the GAN gene responsible for causing this condition. Molecular analysis is also used to look at specific areas of DNA for changes related to GAN. Magnetic resonance imaging (MRI) can provide useful information about any structural changes that may be occurring due to GAN related damage of the brain and spinal cord such as areas where nerves have become inflamed or spread apart farther than normal distances (gaps). Clinical examination by a physician helps determine muscle tone, strength, range of motion, cognitive function etc., followed by electromyography which tests electrical activity produced by muscle contractions.
Treatment
Currently there is no cure for GAN but supportive care measures help improve quality of life. Physical therapy helps maintain existing muscle strength while minimizing further weakness or deformity from developing due to joint contractures. Occupational therapy assists with activities that require fine motor skills like writing/typing/drawing etc., orthopedic bracing/splinting helps support weakened limb muscles so they do not experience further strain during daily activities such as walking etc., communication devices facilitate communication if speech has been affected significantly while assistive technology aids with mobility issues so patient can move around independently.
Essential Questions and Answers on Giant axonal neuropathy in "MEDICAL»DISABILITY"
What is Giant Axonal Neuropathy?
Giant axonal neuropathy (GAN) is a rare, inherited, degenerative disorder of the nervous system. It affects nerve cells in the brain and spine, leading to progressive disability. Symptoms include difficulty walking, muscle wasting, loss of sensation, and seizures. GAN can also affect other parts of the body such as the eyes and heart.
Who is at risk for developing GAN?
GAN is an inherited disease that is passed down from generation to generation within families. A person with one parent who has GAN will have a 50% chance of inheriting it as well.
What symptoms should I look out for if I may have GAN?
Possible symptoms associated with GAN include difficulty walking, muscle wasting, loss of sensation, seizures, vision problems and heart abnormalities. In general though people with GAN experience progressive neurological disability over time due to nerve degeneration.
Can GAN be treated?
Currently there is no known cure for GAN but there are treatments available that can help slow the progression and reduce symptoms. These include physical therapy to maintain coordination and mobility, medications to help manage seizures or other complications of GAN and genetic counseling to help clarify risk factors for family members.
Does lifestyle make a difference for people with GAN?
Yes! Eating healthy foods full of essential vitamins and minerals can be beneficial for anyone but especially those with chronic illnesses like GAN. Developing good habits such as exercising regularly or avoiding activities that could put strain on weakened joints can also help keep symptoms manageable over time.
Are there any clinical trials ongoing that are researching potential treatments for GAN?
Yes! Clinical Trials are ongoing at various research sites which are looking into different treatment options for people with GAN including gene replacement therapy, stem-cell treatments and tissue transplants. To find out more information about these trials you could contact your doctor or search online using "GAN clinical trials".
What type of medical specialists normally treat patients with Giant Axonal Neuropathy?
Patients diagnosed with giant axonal neuropathy should see their regular physician on an ongoing basis along with a neurologist who specializes in treating neuromuscular diseases; they may also need to visit a physical therapist if their mobility begins to deteriorate due to weakness or balance issues from the gait disturbance associated with this disorder. Additionally an eye doctor may be needed if vision problems occur as well as genetic counselors if there’s concerns about passing it on through family members.
Is there any support groups available specifically tailored towards people living with Giant Axonal Neuropathy?
Yes! The Global Foundation for Peroxisomal Disorders (GFPD) offers support programs specifically tailored towards individuals living with Giant Axonal Neuropathy (GAN) as well as their families including online support forums where members can connect directly to ask questions or share experiences related to their individual conditions. Additionally many local chapters offer face-to-face meetings so members can find fellowship among others going through similar challenges.
Where can I find reliable information about giant axonal neuropathy? Answer
The National Institute of Neurological Disorders & Stroke (NINDS) provides reliable information about giant axonal neuropathy diagnosis, symptoms management experiences from patients living with it as well research studies available that cover treatment options being explored today
Final Words:
Giant axonal neuropathy is a rare inherited disorder caused by changes/mutations in “Gigaxonin” gene which affects normal functioning of nervous system leading to progressive muscle weakness, impaired movement & sensation along with developmental delays & seizures among infants. Diagnosing GAN requires genetic testing & MRI scans while supportive treatments include physical therapy, occupational therapy & assistive technology devices which help improve quality of life significantly although there is no known cure yet.
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