Скачать или смотреть RISDIPLAM DAY 57

On Day 57 of my Risdiplam Journey I am reporting no significant changes but more small baby step changes. I talk about my forthcoming care and exercise plans and I am joined by my longest serving carer Christy.

Risdiplam (Evrysdi) is an approved treatment for (SMA) in adults and children 2 months of age and older.

Risdiplam (Evrysdi) is a survival motor neuron-2 (SMN2) mRNA splicing modifier. A liquid medicine, it is administered daily by mouth or feeding tube and is the first and only medicine for SMA that can be taken at home. It works to increase and sustain functional survival motor neuron (SMN) protein levels in the central nervous system and peripheral tissues. SMN protein is found throughout the body and is critical for maintaining healthy motor neurons, responsible for transmitting movement signals from the brain to the muscles. People affected by SMA are dependent on the SMN2 gene to produce SMN protein, as they carry a mutation in chromosome 5q resulting in the SMN1 gene producing insufficient levels of functional SMN protein. Evidence shows that increasing the levels of SMN protein has significant clinical benefits for people living with a wide range of SMA types.

You can find more about SMA here

NHS
https://www.nhs.uk/conditions/spinal-...

UK Charity
https://smauk.org.uk

Treatment Charity UK
https://www.treatsma.uk

Cure SMA (USA)
https://www.curesma.org

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