Duchenne muscular dystrophy history and symptoms: Difference between revisions
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==Overview== | ==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. | 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 [[Symptom|symptoms]] of [[muscle weakness]] specially in the [[lower limbs]], difficulty rising from a sitting position, [[Gait abnormality|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 [[Symptom|symptoms]] of Duchenne muscular dystrophy include mild [[cognitive impairment]] ([[OCD]], [[anxiety]], [[autism]], [[ADHD]]) and [[developmental delay]]. | ||
==History and Symptoms== | ==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. | *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 [[Symptom|symptoms]] of [[muscle weakness]] specially in the [[lower limbs]], difficulty rising from a sitting position, [[Gait abnormality|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. | ||
=== History === | === History === | ||
Patients with Duchenne muscular dystrophy may have a positive history of:<ref name="pmid14424475">{{cite journal |vauthors=MORTON NE, CHUNG CS |title=Formal genetics of muscular dystrophy |journal=Am. J. Hum. Genet. |volume=11 |issue= |pages=360–79 |date=December 1959 |pmid=14424475 |pmc=1932041 |doi= |url=}}</ref> | [[Patient|Patients]] with Duchenne [[muscular dystrophy]] may have a positive history of:<ref name="pmid14424475">{{cite journal |vauthors=MORTON NE, CHUNG CS |title=Formal genetics of muscular dystrophy |journal=Am. J. Hum. Genet. |volume=11 |issue= |pages=360–79 |date=December 1959 |pmid=14424475 |pmc=1932041 |doi= |url=}}</ref> | ||
*A family member with Duchenne muscular dystrophy | *A family member with Duchenne [[muscular dystrophy]] | ||
*History of consanguinity marriage in their parents | *History of consanguinity marriage in their parents | ||
===Common Symptoms=== | ===Common Symptoms=== | ||
Common symptoms of Duchenne muscular dystrophy include:<ref name="pmid7020835">{{cite journal |vauthors=Gardner-Medwin D |title=Clinical features and classification of the muscular dystrophies |journal=Br. Med. Bull. |volume=36 |issue=2 |pages=109–15 |date=May 1980 |pmid=7020835 |doi= |url=}}</ref><ref name="pmid16135534">{{cite journal |vauthors=Parker AE, Robb SA, Chambers J, Davidson AC, Evans K, O'Dowd J, Williams AJ, Howard RS |title=Analysis of an adult Duchenne muscular dystrophy population |journal=QJM |volume=98 |issue=10 |pages=729–36 |date=October 2005 |pmid=16135534 |doi=10.1093/qjmed/hci113 |url=}}</ref><ref name="pmid3181201">{{cite journal |vauthors=Eiholzer U, Boltshauser E, Frey D, Molinari L, Zachmann M |title=Short stature: a common feature in Duchenne muscular dystrophy |journal=Eur. J. Pediatr. |volume=147 |issue=6 |pages=602–5 |date=August 1988 |pmid=3181201 |doi= |url=}}</ref><ref name="pmid15961695">{{cite journal |vauthors=Kohler M, Clarenbach CF, Böni L, Brack T, Russi EW, Bloch KE |title=Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy |journal=Am. J. Respir. Crit. Care Med. |volume=172 |issue=8 |pages=1032–6 |date=October 2005 |pmid=15961695 |doi=10.1164/rccm.200503-322OC |url=}}</ref> | Common [[Symptom|symptoms]] of Duchenne muscular dystrophy include:<ref name="pmid7020835">{{cite journal |vauthors=Gardner-Medwin D |title=Clinical features and classification of the muscular dystrophies |journal=Br. Med. Bull. |volume=36 |issue=2 |pages=109–15 |date=May 1980 |pmid=7020835 |doi= |url=}}</ref><ref name="pmid16135534">{{cite journal |vauthors=Parker AE, Robb SA, Chambers J, Davidson AC, Evans K, O'Dowd J, Williams AJ, Howard RS |title=Analysis of an adult Duchenne muscular dystrophy population |journal=QJM |volume=98 |issue=10 |pages=729–36 |date=October 2005 |pmid=16135534 |doi=10.1093/qjmed/hci113 |url=}}</ref><ref name="pmid3181201">{{cite journal |vauthors=Eiholzer U, Boltshauser E, Frey D, Molinari L, Zachmann M |title=Short stature: a common feature in Duchenne muscular dystrophy |journal=Eur. J. Pediatr. |volume=147 |issue=6 |pages=602–5 |date=August 1988 |pmid=3181201 |doi= |url=}}</ref><ref name="pmid15961695">{{cite journal |vauthors=Kohler M, Clarenbach CF, Böni L, Brack T, Russi EW, Bloch KE |title=Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy |journal=Am. J. Respir. Crit. Care Med. |volume=172 |issue=8 |pages=1032–6 |date=October 2005 |pmid=15961695 |doi=10.1164/rccm.200503-322OC |url=}}</ref> | ||
*Muscle weakness specially in the lower limbs starting between the ages of 2 and 5 years | *[[Muscle weakness]] specially in the [[lower limbs]] starting between the ages of 2 and 5 years | ||
*Difficulty rising from a sitting position | *Difficulty rising from a sitting position | ||
*Balance problems | *[[Gait abnormality|Balance problems]] | ||
*Toe walking | *[[Toe walking]] | ||
*Grow retardation | *Grow retardation | ||
*Clumsiness | *[[Clumsiness]] | ||
*Frequent falls | *Frequent falls | ||
*Multiple fractures | *Multiple [[fractures]] | ||
*Increase the size of the back of the lower leg | *Increase the size of the back of the lower leg | ||
*Curvature of the spine | *Curvature of the [[spine]] | ||
*Breathing problems | *[[Breathing]] problems | ||
*Urinary problems | |||
===Less Common Symptoms=== | ===Less Common Symptoms=== | ||
Less common symptoms of Duchenne muscular dystrophy include:<ref name="pmid25149498">{{cite journal |vauthors=Mirski KT, Crawford TO |title=Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis |journal=J. Pediatr. |volume=165 |issue=5 |pages=1008–10 |date=November 2014 |pmid=25149498 |doi=10.1016/j.jpeds.2014.07.006 |url=}}</ref> | Less common [[symptoms]] of Duchenne muscular dystrophy include:<ref name="pmid25149498">{{cite journal |vauthors=Mirski KT, Crawford TO |title=Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis |journal=J. Pediatr. |volume=165 |issue=5 |pages=1008–10 |date=November 2014 |pmid=25149498 |doi=10.1016/j.jpeds.2014.07.006 |url=}}</ref> | ||
*Mild cognitive impairment (OCD, anxiety, autism, ADHD) | *Mild [[cognitive impairment]] ([[OCD]], [[anxiety]], [[autism]], [[ADHD]]) | ||
*Developmental delay | *Developmental delay | ||
* | * | ||
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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.
History
Patients with Duchenne muscular dystrophy may have a positive history of:[1]
- A family member with Duchenne muscular dystrophy
- History of consanguinity marriage in their parents
Common Symptoms
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
Less common symptoms of Duchenne muscular dystrophy include:[6]
- Mild cognitive impairment (OCD, anxiety, autism, ADHD)
- Developmental delay
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.