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Identifying the Early Warning Signs & Symptoms of DMD

Recognizing the signs

DMD is a rare and fatal neuromuscular disorder that primarily affects males.1 Patients with DMD begin experiencing irreversible muscle degeneration at birth and may show signs as early as 4 months.2,3,4

 

Some Early Signs to look for:

 


*Timing is approximate.

Common signs of DMD can be divided into motor and
non-motor signs:

 

Motor signs

Not walking until ~18 months old5,6

Walking on toes with legs apart, walking with belly pointed out, or both5,6,7,8

Falling down often9

Needing help getting up from floor, or using arms to walk body to standing position (Gower’s maneuver)5

Enlarged calves10

Fatigue11

Non-motor signs

Emotional/behavioral challenges15

Aggressive/noncompliant behavior, depressed/overcontrolled behavior

Cognitive impairment12,15

Intellectual disability, learning disability, delayed speech

Neuropsychiatric disorders15,16

ADHD, anxiety, autism spectrum disorder, epilepsy

If your patient has developmental delays, checking creatine kinase (CK) levels can help determine if a neuromuscular disorder is present.13 

The National Task Force for Early Identification of Childhood Neuromuscular Disorders, the AAP,† and the AAFP‡ recommend early CK testing.3,13,14 

†American Academy of Pediatrics. 
‡American Academy of Family Physicians.

IF DEVELOPMENT IS DELAYED, CHECK CK
REFERENCES
1. Bushby K, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77–93 2. Chen Y-W, Nagaraju K, Bakay M, et al. Early onset of inflammation and later involvement of TGF in Duchenne muscular dystrophy. Neurol. 2005;65:826–834. 3. Lurio JG, Peay HL, Mathews KD. Recognition and management of motor delay and muscle weakness in children. Am Fam Physician. 2015;91:38-44. 4. Klingler W, Jurkat-Rott K, Lehmann-Horn F, Schleip R. The role of fibrosis in Duchenne muscular dystrophy. Acta Myol. 2012;31(3):184-195. 5. Emery AEH, Muntoni F and Quinlivan R. Duchenne Muscular Dystrophy 4th edition. Oxford. 2015 6. Birnkrant DJ, Bushby K, Bann CM, et al; for the DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17:251-267. 7. Chang RF, Mubarak SJ. Pathomechanics of Gowers' sign: a video analysis of a spectrum of Gowers' maneuvers. Clin Orthop Relat Res. 2012;470(7):1987-91. 8. Peverelli L, Testolin S, Villa L. Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy. Neurology. 2015;85:1886-1893. 9. Aartsma-Rus A, Ginjaar lB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016;53:145-151. 10. Emery AEH. The muscular dystrophies. Lancet. 2002;359:687-695. 11. El-Aloul B, Speechley KN, Wei Y, Wilk P, Campbell C. Fatigue in young people with Duchenne muscular dystrophy. Dev Med Child Neurol. 2020;62:245-251. 12. Ciafaloni E, Fox DJ, Pandya S, et al. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009;155:380-385. 13. National Task Force for Early Identification of Childhood Neuromuscular Disorders website. Accessed on May 4, 2021. https://childmuscleweakness.org/know-the-signs/signs-of-weakness-by-age-for-primary-care 14. Noritz GH, Murphy NA. Motor delays: early identification and evaluation. Pediatrics. 2013;131:e2016-e2027. 15. Ricotti V, Mandy WPL, Scoto M, et al. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol. 2016;58:77-84. 16. Hendriksen RGF, Vles JSH, Aalbers MW, Chin RFM, Hendriksen JGM, Brain-related comorbidities in boys and men with duchenne muscular dystrophy: a descriptive study, European Journal of Paediatric Neurology 2018 22(3):488-497