Duchenne Muscular Dystrophy

DMD

Duchenne Muscular Dystrophy
Sapphire Africa Foundation is the foremost organization in sub-Saharan Africa dedicated to the fight against Duchenne Muscular Dystrophy (DMD) and other neuromuscular disorders. As a pioneering force in advocacy, care, and research, we are transforming lives by empowering families, advancing medical support, and championing groundbreaking initiatives to improve the quality of life for those affected. Our commitment to awareness, treatment accessibility, and long-term solutions makes us the undisputed leader in the region, driving hope and change for countless individuals battling these conditions.

Understanding Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy (DMD) is a severe, progressive genetic disorder that primarily affects boys, with an estimated incidence of 1 in every 3,500 male births worldwide. It is caused by mutations in the dystrophin gene (DMD gene), which plays a critical role in producing dystrophin, a protein essential for stabilizing and protecting muscle fibers during movement.

In the absence of dystrophin, muscle cells become fragile and prone to damage, leading to progressive muscle weakness, degeneration, and loss of function. Over time, affected muscle tissue is replaced by fat and scar tissue, significantly impairing mobility and respiratory function.

DMD is a lifelong condition that requires comprehensive medical care, early intervention, and supportive therapies to help manage symptoms, improve quality of life, and prolong survival. While there is currently no cure, advancements in research and treatment continue to offer hope for better disease management and potential breakthroughs in the future.

Genetic Causes and Inheritance

DMD is typically inherited in an X-linked recessive pattern, meaning the faulty gene is passed down from the mother (who is usually a carrier) to her son. Female carriers often do not experience symptoms because they have a second healthy X chromosome that compensates for the mutation. However, in rare cases, carriers may show mild symptoms such as muscle weakness or heart issues.

Early Signs and Diagnosis

DMD symptoms usually become noticeable between ages 2 and 5, often when parents observe developmental delays. Some of the early warning signs include:

Our DMD Approach

At Sapphire Africa Foundation, we focus on raising awareness, providing essential mobility tools, therapy, and financial support for Duchenne Muscular Dystrophy (DMD) patients

Raising Awareness

Unfortunately, many people in rural Africa are unaware of Duchenne Muscular Dystrophy (DMD).

Providing Mobility Tools

Many children with Duchenne lose their ability to walk and require assistive devices to enhance their mobility.

Therapy Services

Through occupational and physiotherapy, we offer free therapy sessions to help Duchenne children ...

Nutritional Support

Many of the families we assist are economically disadvantaged and struggle to afford proper nutrition.

Counseling & Emotional Support

A Duchenne diagnosis can be emotionally devastating for both the child and their family.

Sustainable Livelihood Programs

Through these initiatives, Sapphire Africa Foundation is committed to improving the lives of Duchenne patients..

Collaborations and Partnerships

Over the years, we have established strong partnerships and collaborations with local governments, non-profit organizations, corporate companies, and educational institutions to expand our services to numerous Duchenne families.

Additionally, we have fostered international collaborations with several American organizations, including The Everett and Austin Project and Cure Duchenne, both based in the United States of America. These partnerships have been instrumental in enhancing our outreach and impact in the fight against Duchenne Muscular Dystrophy.

Paul Collins of Sapphire Africa Foundation alongside senior physiotherapist Douglas Levine from Cure Duchenne.

Our Scope

Sapphire Africa Foundation extends its impact across East, Central, and West Africa, providing critical support, care, and advocacy for individuals and families affected by Duchenne Muscular Dystrophy (DMD) and other neuromuscular disorders.

Our services currently reach communities in:
- East Africa – Uganda, Kenya, Rwanda, and Tanzania
- Central Africa – Cameroon
- West Africa – Nigeria

Through our medical, therapeutic, educational, and economic empowerment programs, we work closely with local governments, healthcare institutions, advocacy groups, and community-based organizations to ensure access to quality care and sustainable support systems. Our goal is to expand our reach further, creating a network of support and resources that bridges the gap in DMD awareness, diagnosis, treatment, and patient care across Africa.