Duchenne muscular dystrophy history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

The hallmark of Duchenne muscular dystrophy is muscle weakness. A positive history of a family member with Duchenne muscular dystrophy and history of consanguinity marriage in their parents is suggestive of Duchenne muscular dystrophy. The most common symptoms of muscle weakness specially in the lower limbs, difficulty rising from a sitting position, balance problems, toe walking, grow retardation, clumsiness, frequent falls, multiple fractures, increase the size of the back of the lower leg, curvature of the spine, and breathing problems. Less common symptoms of Duchenne muscular dystrophy include mild cognitive impairment (OCD, anxiety, autism, ADHD) and developmental delay.

History and Symptoms

The hallmark of Duchenne muscular dystrophy is muscle weakness. A positive history of a family member with Duchenne muscular dystrophy and history of consanguinity marriage in their parents is suggestive of Duchenne muscular dystrophy. The most common symptoms of muscle weakness specially in the lower limbs, difficulty rising from a sitting position, balance problems, toe walking, grow retardation, clumsiness, frequent falls, multiple fractures, increase the size of the back of the lower leg, curvature of the spine, and breathing problems.

Patients with Duchenne muscular dystrophy may have a positive history of:^[1]

Common symptoms of Duchenne muscular dystrophy include:^[2]^[3]^[4]^[5]

Muscle weakness specially in the lower limbs starting between the ages of 2 and 5 years
Difficulty rising from a sitting position
Balance problems
Toe walking
Grow retardation
Clumsiness
Frequent falls
Multiple fractures
Increase the size of the back of the lower leg
Curvature of the spine
Breathing problems
Urinary problems

Less common symptoms of Duchenne muscular dystrophy include:^[6]

References

↑ MORTON NE, CHUNG CS (December 1959). “Formal genetics of muscular dystrophy”. Am. J. Hum. Genet. 11: 360–79. PMC 1932041. PMID 14424475.
↑ Gardner-Medwin D (May 1980). “Clinical features and classification of the muscular dystrophies”. Br. Med. Bull. 36 (2): 109–15. PMID 7020835.
↑ Parker AE, Robb SA, Chambers J, Davidson AC, Evans K, O’Dowd J, Williams AJ, Howard RS (October 2005). “Analysis of an adult Duchenne muscular dystrophy population”. QJM. 98 (10): 729–36. doi:10.1093/qjmed/hci113. PMID 16135534.
↑ Eiholzer U, Boltshauser E, Frey D, Molinari L, Zachmann M (August 1988). “Short stature: a common feature in Duchenne muscular dystrophy”. Eur. J. Pediatr. 147 (6): 602–5. PMID 3181201.
↑ Kohler M, Clarenbach CF, Böni L, Brack T, Russi EW, Bloch KE (October 2005). “Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy”. Am. J. Respir. Crit. Care Med. 172 (8): 1032–6. doi:10.1164/rccm.200503-322OC. PMID 15961695.
↑ Mirski KT, Crawford TO (November 2014). “Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis”. J. Pediatr. 165 (5): 1008–10. doi:10.1016/j.jpeds.2014.07.006. PMID 25149498.

Overview