% % % % % % % % 2010 2011 2014 201 5 20 16 2017 2018 For Independence Strength & Life A guide to the early referral and diagnosis of spinal muscular atrophy (SMA) Spinal Muscular Atrophy takes away the freedom to walk, talk, run and dance. To laugh, and hug. To eat and breathe. This magazine aims to raise awareness about SMA to give freedom back- to give people a lifetime live unlimited.

% % % % 2010 2011 2014 201 5 20 16 2017 2018 Unite to End SMA By Raising Awareness Content Spinal Muscular Atrophy - An Overview 3 • What is Spinal Muscular Atrophy and what causes it? • Inheritance of SMA • Epidemiology of SMA • Why is early referral and diagnosis important? • How does SMA present? • Types of SMA • Diagnosis of SMA • Therapeutic approaches for SMA and new treatments The state's initiative about SMA 8 • Egypt's efforts for SMA patients • Decisions that are taken for caring of SMA patients • 24 clinics for SMA • Newborn screening for early detection and free treatment SMA community APP 9 • Information about the APP and its content • Recommendations for Egypt to apply this idea • Some ideas to increase awareness of SMA by using this app and caring about families of SMA Our 3 key messages 10 Links for more information 10 References 10

% % % % 2010 2011 2014 201 5 20 16 2017 2018 SMA is a genetic neuromuscular disorder characterized by progressive muscle weakness and wasting, due to the degeneration of motor neurons. Untreated, it is the most common genetic cause of infant mortality and an important cause of motor delay or regression in children that should not be missed. What causes SMA? SMA is an autosomal recessive condition caused by a deficiency in SMN protein due to a mutated or deleted SMN1 gene. This protein is required for the survival of motor neurons. Without the SMN protein, motor neuron loss in the brainstem and spinal cord occurs, leading to subsequent denervation and atrophy of muscles. SMA AUTOSOMAL RECESSIVE INHERITANCE What is SMA

2 1 3 4 How SMA Common? Putting SMA in context: The clinical imperative Why is early referral and diagnosis important? How does SMA present? SMA affects one in 10,000 live births and the carrier frequency for SMN1 mutations is estimated to be between one in 38 and one in 70. Unlike other genetic conditions, SMA affects individuals of all ethnic groups. Doctors often adopt a ‘wait-and-see’ approach when children show signs of delayed motor development. However, recent advances in therapy have made previously untreatable diseases, like SMA, treatable. Timely treatment initiation may delay disease progression and improve outcomes. While there is cure for SMA, a pharmacological treatment option is now available. Clinical trials indicate that earlier treatment initiation leads to better clinical outcomes, due to reduced motor neuron loss. This highlights the need for proactive, early intervention when clinical suspicion arises. SMA presents with progressive proximal muscle weakness and atrophy in the setting of unaffected cognition. Due to the wide variation in the age of onset and clinical course of the disease, SMA is classified into five different types. But Type 0 is rare so we will be focusing on 4 primary types. • • • •

4. Hone your nonverbal skills 3. Prepare for the call What are the red flags for SMA? • Muscle weakness (with or without atrophy). • Hypotonia (relaxed tone, ‘floppy’). • Poor head control (e.g., head lag when pulled to sit, if age >5 months). • Tongue fasciculations. • Frog leg’ posture when lying. • Reduced or absent tendon reflexes.

% % % % Clinically Molecular Genetics Test Electromyography Muscle Biopsy Diagnosis of SMA Treatment and Management of SMA MEDICATIONS Early treatment with an FDA-approved medication can slow or stop the progression of SMA symptoms. This allows muscles to keep the ability they have when starting the medication. Individuals on this therapy will require life-long treatment. PHYSICAL THERAPY These therapies can help to determine equipment needs or adjustments to living and working environments to help maintain or improve independence GENE THERAPY FDA-approved gene therapy is available for the treatment of children with SMA. Gene therapy targets the cause of SMA and requiresfewer treatments

1. Perfect your profile pic 2. Upgrade your tech Therapeutic approaches for SMA Supportive treatment like pulmonary, orthopedic, nutritional,pyscological and social support. Spinraza, a treatment available in the Uk and USA and lead to significant improvement in motor function for children with SMA. Because it increases the amount of functional SMN protein produced. Risdiplam, is an oral medication. It is a pyridazine derivative that works via modifying SMN2 splicing and increasing functional SMN protein levels. Gene Therapy, zolgensema, is now available for babies with SMA type 1. It is very expensive so there is limitation in its injection. This intravenous injection gene therapy utilizes the properties of adeno-associated virus serotype 9 and uses it to deliver the SMN1 gene into cells and thereby allowing the body to produce functioning SMN protein.

Every affected newborn will have periodic follow-ups, its data will be digitized and there will be a genetic-disease check box in its birth certificate. As part of Egypt’s 2030 Vision regarding health, a total of 24 clinics across the country are ready to receive young spinal muscular atrophy patients to conduct clinical, genetic, and partial biology tests as well as receive treatment. Ten children below two years of age have already been enlisted to receive the most expensive treatment in the world to treat spinal muscular atrophy, where the medicine costs around L.E.34 million. The treatment has been administered to the first of the enlisted babies. The state's initiative launched in June 2021 in line with Egyptian President Abdel-Fattah El-Sisi's directives. The decision was made after an Egyptian collected the cost in an online campaign to treat her affected son (Rasheed ). Newborn Screening SMA now meets Egypt's interest for early detection and free treatment SMA AWARNESS MONTH AUGEST August is SMA Awareness Month! While working yearround to raise awareness and funds for SMA. August is the time to shine a brighter spotlight on the needs, wants, hopes, and experiences of our community.

We recommend applying this idea of a specific app that being belonged only to Egypt and covers all aspects that help in spreading awareness of the disease and knowing more about SMA. Families of SMA patients also need care so the app will include a partition for families to ask questions of their peers; to support their care questions and other hints, tips, or ideas they may have found useful. Egypt has a total 24 clinics across the country that are ready to receive young patients with SMA. We recommend that the app has a partition for this process and making this online to facilitate on people from remote areas. And the next step viewing the papers needed and giving them the specific date for sending them to its clinic belonging area . Also, the app should have the total number of SMA patients and all information about SMA patients in Egypt. It’s time for Egypt to … OUR RECOMMENDATIONS SMA Australia, in partnership with Roche Australia, has developed a Community App to house all our dedicated SMA resources. This SMA community app include all things about SMA : ✓ Factsheets ✓ Exercises ✓ Family support ✓ Videos ✓ Information Booklets ✓ Brochures ✓ eBooks ✓ Podcasts

% % % % 2010 2011 2014 201 5 20 16 2017 2018 The Owners of the magazine For more information : SMA newborn screening is very important for earlier diagnosis Broad education for early detection of SMA • SMA Overview: https://www.ninds.nih.gov/spinal -muscular-atrophy-fact-sheet • SMA education and resources: Cure SMA at curesma.org • Clinical trials for SMA https://treat-nmd.org/resourcessupport/researchoverview/about-clinicalresearch/current-trials-in-sma/ For more information Resources • Spinal-muscular-atrophy.pdf (bewaretherare.com.au) • https://english.ahram.org.eg/NewsConte nt/1/64/416319/Egypt/Politics-/Sisi-urgesearly-detection-for-Spinal-MuscularAtr.aspx • SMA_2020_A4_Information_Guidecompressed.pdf (smaaustralia.org.au) • https://www.curesma.org/care-seriesbooklets/ 1 SMA newborn screening is very important for earlier diagnosis. 2 Timely access to treatment for all with SMA. 3 Broad education for early detection of SMA. Our 3 KEY MESSAGES Doaa Hamed Asmaa Meselhy