All Posts tagged Genetic Disorder

Arthritis

Among the many ailments that affect more women than men is none other than arthritis. There are several types of arthritis, with the most common being osteoarthritis, rheumatoid arthritis, and gout. Arthritis is known to get worse with age, and some of the prevalent symptoms can include pain, stiffness, swelling, and decreased range of motion– specifically targeting the joints. If you have a family history of arthritis, then it is never too soon to start taking precautions. There may not be a way to fully prevent arthritis yet, but there are several preventative measures and ways to minimize its impact on your day to day life. 

What are the risk factors?

As with many conditions, if you have a family history of arthritis–mainly your parents and siblings–you are more likely to develop it yourself. For other types of arthritis, age can be a significant risk factor; the older you get, the more your chances of developing it are. Additionally, women are more likely to develop rheumatoid arthritis while men are at a higher risk of developing gout.

If you have previously injured a joint, the likelihood of getting arthritis at that particular joint increases. Similarly, if you carry extra weight you are at a higher arthritis risk as you put stress on your joints. 

How do I manage arthritis? 

Your doctor may have already prescribed you medication to help with the effects of arthritis, or suggested other techniques of dealing with it. The CDC has a list of 5 steps to help you manage arthritis–they call it the “Strive for Five.” 

  1. New Self-Management Skills: learning strategies to help manage your arthritis can help you feel more in control of your own health, better equip you to manage pain and other symptoms, reduce stress and improve your mood, as well as plan and complete activities you value. 
  2. Be Active: regular exercise and physical activity can help you manage the pain that comes with arthritis, as well as improve your overall quality of life and health. You should strive for about 150 minutes of exercise per week if you have arthritis, specifically of moderate-intensity. Of course, change your activity plan based on what your health allows and on your arthritis symptoms. 
  3. Talk to Your Doctor: as is the case with any condition, general advice only goes so far. You should be openly communicating with your doctor about your symptoms, and be in regular contact with your healthcare provider with regards to your arthritis treatment plan. 
  4. Manage your Weight: removing excess weight from your body will lessen the stress that you put on your joints, thus helping the joint pain associated with arthritis. It will also help you improve physical function. 

Protect your Joints: joint injuries can cause or worsen arthritis. Try to engage in joint-safe activities that don’t put too much stress on your joints and are relatively injury-safe.

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Rett Syndrome: Rare Disorder

Rett Syndrom: Rare Disorder
It is possible that you may not even have heard of Rett Syndrome, as it is a very rare disorder that almost exclusively affects females. According to
Cleveland Clinic, 1 in every 10,000- 15,000 baby girls is born with Rett Syndrome–very rarely are males affected. In short, Rett syndrome is a genetic neurological disorder that affects the development of the brain and causes a progressive loss of motor skills and language over 4 stages: early onset; rapid deterioration; plateau and late motor deterioration. Most babies born with Rett Syndrome appear to develop normally until 6 months of age, when symptoms start to appear–most pronounced changes take place between 12 and 18 months of age. 

What are the Symptoms? 

As any new parent, you are likely very closely observing your child’s growth, and keeping a close eye on the development of their mental, linguistic, and motor skills. Know that before a diagnosis for Rett Syndrome is given, other conditions that may resemble its symptoms must be ruled out first. 

  • One of the first symptoms is being born with an abnormally small head–as the infant grows, there will be delayed growth in other parts of the body as well. 
  • Loss of movement and coordination abilities is another symptom. At the age when your baby should normally learn how to crawl, walk, or use their hands you may notice a rapid loss of these abilities. 
  • Loss of linguistic and communication abilities is often seen in children with Rett Syndrome as well. Children impacted by Rett may rapidly lose the ability to speak, or communicate in other ways; this can be accompanied by a loss of interest in their surroundings as well. 

Some other symptoms closely resemble more common neurological disorders–like Autism Spectrum Disorder–since children may develop unusual eye and hand movements that are repetitive and seemingly purposeless, may become increasingly and easily irritable and agitated, display intellectual disabilities, or suffer from sleep disturbances. 

How is it diagnosed?

As mentioned, since Rett Syndrome can resemble other neurological or genetic disorders, most professionals will approach it by process of elimination. Parents and caregivers play a big role in the diagnosis process as they can keep a detailed record of the child’s development and activities/responses. 

If healthcare providers deem it necessary, or parents request it, then a simple blood test is performed to look for the gene mutation MECP2 that has been known to confirm the diagnosis of Rett Syndrome. Unfortunately, this mutation is quite random (and rare) so pre-genetic testing will not show any results. In fact, the chance of passing down Rett Syndrome from a healthy parent to their child is less than 1%. If someone in your family has been diagnosed with Rett Syndrome, you would want to bring this up with your healthcare provider, but Rett is generally not an inherited condition.  

https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233 

https://my.clevelandclinic.org/health/articles/6089-rett-syndrome#diagnosis-and-tests 



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