What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD), first identified by French neurologist Guillaume Benjamin Amand Duchenne in the 1860s, is a genetic disorder caused by mutations in the DMD gene, which disrupts the production of dystrophin—a protein essential for keeping muscle cells intact. This leads to progressive muscle degeneration and weakness. DMD is the most common form of muscular dystrophy, affecting approximately 1 in 5,000 male births, as noted by the Muscular Dystrophy Association. It primarily affects boys due to its X-linked recessive inheritance pattern, though rare cases can occur in girls. DMD is part of a group of conditions called dystrophinopathies, which also includes Becker muscular dystrophy (BMD, a milder form), an intermediate form between DMD and BMD, and DMD-associated dilated cardiomyopathy, a heart condition with minimal skeletal muscle involvement.
Muscle weakness, the hallmark symptom of DMD, often begins between ages 2 and 3, initially impacting proximal muscles (closer to the body’s core, like the hips and shoulders) before progressing to distal limb muscles (like the hands and feet). Early signs include difficulty with jumping, running, or walking, often accompanied by a waddling gait, enlarged calves, and lumbar lordosis (an inward spinal curve). As the condition advances, weakness affects the upper body, and complications like scoliosis can impair pulmonary function, potentially leading to respiratory failure. The heart and respiratory muscles are also impacted over time, increasing the risk of cardiomyopathy. While DMD is a progressive condition, advancements in treatments—such as physical therapy, corticosteroids, and gene therapies outlined by the Duchenne Parent Project—can slow progression and improve quality of life, helping children with DMD live into their 20s or 30s with proper care.
Books on Muscular Dystrophy for Parents
| Life Lessons from Duchenne by Karen Weaver Published 2019, a heartfelt guide by a mother, offering practical advice and emotional support for parents of children with Duchenne muscular dystrophy. Muscular Dystrophy: A Child and Parents’ Guide by Ruby Robinson |
Interabled by Shane Burcaw Published 2025, shares stories of love and disability, including the author’s journey with muscular dystrophy, inspiring resilience. The Abilities in Me by Gemma Keir |
Resources for parents of children with Duchenne muscular dystrophy (DMD)
| Parent Project Muscular Dystrophy (PPMD) Offers comprehensive support with a “Newly Diagnosed” guide, care resources, and The Duchenne Registry for research participation. Includes tools like developmental milestone charts. Muscular Dystrophy Association (MDA) KidsHealth by Nemours National Institute of Neurological Disorders and Stroke (NINDS) |
Child Neurology Foundation Provides a disorder directory and family support tools, including visuals on neurological impacts of DMD. Johns Hopkins Medicine HealthyChildren.org (American Academy of Pediatrics) National Organization for Rare Disorders (NORD) |
Our children with Duchenne Muscular Dystrophy (DMD)
* Listed children often have multiple diagnoses and attention should be given to the specific information in each child’s profile.
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