On 28 February 2018 it is Rare Disease Day to raise awareness for rare diseases and their impact on the lives of patients and families.
It is also an opportunity for participants to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.
Did you know there are some forms of Dystonia that are rare?
Dystonia is a neurological movement condition which affects adults and children and is often not well known. It can affect any part of the body and causes muscles to contract or spasm. Pain, tremors, twisting and other uncontrollable movements can be experienced. Symptoms may be due to the Basal Ganglia or other areas of the brain that control movement. Neurotransmitters may send signals to muscles to cause them to be overactive.
Even though Dystonia can be known as idiopathic or primary Dystonia, it may also be genetic or result from other health conditions such as stroke, other diseases, physical trauma, or as a side effect to certain medications. There are different types of Dystonia and some are rare, such as Dopa-responsive dystonia (DRD), which usually appears in childhood or adolescence with difficulty in walking.
Visit Ophranet to search for more rare forms of Dystonia and other rare conditions. Link: Ophranet Portal
Rare Disease Day 2018 and #CitSciMedBlitz!
Harik, who is part of the ADSG Admin team, volunteers her time despite living with Cervical Dystonia, to support people with all forms of Dystonia, including the genetic and rare forms.
She will be participating in the 24 hour challenge #Mark2Curathon to raise awareness for all rare conditions including NGLY-1 deficiency.
The challenge would be to identify key terms, including genes, diseases, and drugs in all biomedical research which will help the researchers or scientists.
It would be a big achievement in just participating as the condition affects her neck, causes muscle spasms as well other symptoms, and will make it difficult to even attempt the challenge, but she is willing to give it her best to raise awareness for all rare diseases!
Get on board! Raise awareness and support rare disease research!
#Dystonia #ShowYourRare #MyRare #RareDiseaseDay