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18 | InTouch SPRING 2025 MANIFESTING CARRIERS OF DUCHENNE OR BECKER MUSCULAR DYSTROPHY are important. Gentle exercise and stretching (such as swimming or light resistance training) can help maintain strength, flexibility, and balance. • Cardiac monitoring: Regular cardiac assessments (every 1–2 years) are important to monitor for any problems, even if asymptomatic. • Healthy eating: A balanced diet is essential to ensure excessive weight does not impede mobility. Input from a physician and/or a nutritionist is valuable. • Anaesthesia precautions: If surgery is required, it is important to inform the medical team of carrier status, as some anaesthetics should be avoided. • Genetic counselling: Consultation with a genetics professional can help individuals and families understand the condition and plan for the future. Research Research is ongoing, and as more is discovered about the underlying causes of DMD and BMD, it is hoped that treatments targeting these causes will be developed. Several genetic therapies have been approved for DMD in some countries, but not for manifesting carriers or BMD. Therapies in development include: • Gene therapy: Delivery of new genetic material (micro-dystrophin transgene) to produce dystrophin. • Exon-skipping therapy: Corrects certain specific genetic defects, enabling partial production of the dystrophin protein. • Small molecule drugs: Modulate physiological processes to reduce muscle degradation and improve function. • Utrophin modulation: Aims to increase the expression of a protein similar to dystrophin to compensate for dystrophin loss. • Stem cell therapies: Remain investigational. Support Support is available from the MDANZ who can offer information, support, advocacy and referrals to other providers. There is also a nationwide Support Network for those interested in meeting with others. There is no reason why individuals who are manifesting carriers of DMD or BMD should be disadvantaged in terms of receiving full education. For more information, request the Education Pack available from the MDANZ. Disability should not hinder employment possibilities. Any individual has the right to equal pay and equal rights for employment. For more information contact the Employment Relations infoline on 0800 800 863 or visit https://tinyurl. com/3w6z886b Workbridge provides a professional employment service for people with all types of disabilities and administers support funding on behalf of Work and Income. Contact on 0508 858 858 or visit www.workbridge.co.nz More Information Muscular Dystrophy Association can be contacted for further information, assistance, advice, support and referrals, on 0800 800 337 or by e-mail at info@mda.org.nz . The Muscular Dystrophy Association Website also contains information on services available within NZ, contacts, Continued from previous page. membership details, news and links to other sites - www.mda.org.nz Further resources www.nzord.org.nz – the New Zealand Organisation for Rare Disorders website provides information on a number of rare disorders, a directory of support groups, practical advice, health and disability resources, research information, news and issues. www.mdausa.org – the Muscular Dystrophy Association USA website has an extensive site with plenty of further information on any muscular dystrophy conditions as well as research news. www.parentprojectmd.org – the Parent Project Muscular Dystrophy is a nonprofit organization dedicated to ending Duchenne muscular dystrophy through research, advocacy, and comprehensive care initiatives. www.dfsg.org.uk – Duchenne Family Support Group is a UK website with further information on Manifesting Carriers and management. References The Diagnosis and Management of Duchenne Muscular Dystrophy: A Guide for Families. Parent Project Muscular Dystrophy website. https://www.parentprojectmd. org/wp-content/uploads/2018/09/ CareGuideForFamilies_2018.pdf . Accessed Feb 10, 2025. Gatheridge M. Duchenne muscular dystrophy. MedLink Neurology. Johnson N, ed. Updated January 4, 2024. Released March 21, 1994. Accessed February 10, 2025. Riguzzi, P., Sabbatini, D., Fusto, A. et al. Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations. J Neurol 272, 244 (2025). https://doi.org/10.1007/s00415-025- 12987-4