Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a progressive genetic condition that is present mostly in males. Parents may be carriers of DMD without any known family history of the condition. DMD is characterized by generalized muscle weakness that continues to progress throughout childhood. As the child’s symptoms continue to progress throughout their life, walking independently becomes increasingly harder requiring reliance on a wheelchair by age 10-12. Eventually, the muscular weakness continues to worsen and affect cardio and respiratory musculature. There can also be decreased bone density, which increases the risk of fractures, scoliosis, and muscular contractures. DMD is diagnosed by symptoms and muscle biopsy.
Currently, there is not a cure for DMD; however, therapies are available to delay worsening of symptoms and improve the child’s quality of life as much as possible.
Typical signs and symptoms associated with DMD include delayed gross motor milestones (especially sitting, standing, and walking), progressing muscle weakness, enlarged calve muscles, toe walking, and Gowers’s maneuver (needing to walk up legs with hands to return to standing). As the disease progresses, muscular tightness also becomes prevalent, especially in the child’s legs. Diagnosis based on clinical observation is typically noted between the ages of 3 and 5 years old.
Although no treatment has been found to cure DMD, physical therapy can play an important role to delay the progression of symptoms and prolong walking as long as possible. Research has shown symptoms begin to progress more quickly following loss of walking. Stretching is a key component to prevent muscle contractures from forming which can also aid in prolonging walking. The parents and even the kiddos can be taught how to perform these stretches at home as well. Low-impact aerobic exercises can help preserve muscle strength without placing too much stress on the muscles. Eccentric activities (ex: going down steps) should be avoided as they place significant stress on the muscles.
Although there is no known cure for DMD at this time, having children diagnosed involved in various therapies, especially physical and occupational therapies, can significantly improve the child’s quality of life and prolong symptom progression.
-Amy Smith PT, DPT
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Duchenne Muscular Dystrophy - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders). https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/. Published 2021. Accessed September 8, 2021.
Muscular dystrophy - Diagnosis and treatment - Mayo Clinic. Mayoclinic.org. https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/diagnosis-treatment/drc-20375394. Published 2021. Accessed September 8, 2021.