A case for genomic medicine in South African paediatric patients with neuromuscular disease

Area of Science:

• Neurology
• Genetics
• Paediatrics

Background:

• Paediatric neuromuscular diseases (NMDs) are frequently under-recognized and under-diagnosed in Africa, particularly genetic forms.
• Contributing factors include socioeconomic barriers, high disease burden, resource limitations, and a scarcity of specialized expertise and genetic testing facilities.
• Accurate genetic diagnosis is increasingly vital for children with NMDs to access emerging targeted therapies and clinical trials.

Purpose of the Study:

• To raise awareness of common paediatric NMDs in South Africa.
• To highlight current challenges in diagnosing and managing these conditions.
• To propose solutions, including the introduction of the ICGNMD research platform.

Main Methods:

• This is a perspective article, synthesizing current knowledge and challenges.
• It introduces the proposed International Centre for Genetic Neuromuscular Diseases (ICGNMD) platform.
• The platform aims to enhance understanding of NMD aetiology and improve genetic diagnostic capabilities.

Main Results:

• The article identifies significant under-diagnosis of paediatric NMDs in Africa.
• It outlines key challenges hindering diagnosis and access to care.
• The establishment of the ICGNMD is proposed as a solution to improve genetic diagnostics.

Conclusions:

• Addressing the under-diagnosis of paediatric NMDs in Africa requires multi-faceted solutions.
• Enhanced genetic diagnostic capacity and research platforms are essential.
• The ICGNMD platform offers a framework to improve NMD care and research across African populations.