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Myopathy for medical students
1. MYOPATHYMYOPATHY
Prof. AshrAf AbdouProf. AshrAf Abdou
Neuropsychiatry deptNeuropsychiatry dept
Faculty of medicineFaculty of medicine
Alexandria univAlexandria univ
3. When you think aboutWhen you think about
muscle disease?muscle disease?
Weakness:Weakness:
– Child: delayed sitting, standing, walkingChild: delayed sitting, standing, walking
– Adult:Adult:
going upstairs – walking long distance – walking –going upstairs – walking long distance – walking –
standingstanding
Difficulty in carrying heavy objects – difficulty inDifficulty in carrying heavy objects – difficulty in
combing haircombing hair
No sensory complaintNo sensory complaint
No sphincters control problemNo sphincters control problem
MayalgiaMayalgia
4. When you think aboutWhen you think about
muscle disease?muscle disease?
Clincal examinationClincal examination
– Weakness: Bilateral – symmetricalWeakness: Bilateral – symmetrical
– proximal– proximal
– Muscle atrophyMuscle atrophy
5. When you thinkWhen you think
about muscleabout muscle
disease?disease?
Clincal examinationClincal examination
– No sensory abnormalitiesNo sensory abnormalities
– Skeletal deformitiesSkeletal deformities
9. Muscular DystrophyMuscular Dystrophy
Group of inherited diseases
Leads to chronic progressive
muscle atrophy
Usually appears in early
childhood
Most types result in total
disability and early death
11. Prevalence of DMDPrevalence of DMD
Affects 1 in 3500Affects 1 in 3500
newborn malesnewborn males
1/3 of these with1/3 of these with
previous familyprevious family
historyhistory
2/3 sporadic2/3 sporadic
14. Muscles that are affectedMuscles that are affected
In the early stages,In the early stages,
Duchenne MD affectDuchenne MD affect
the pectoral musclesthe pectoral muscles
, the trunk,, the trunk,
hamsterings, calfhamsterings, calf
musclemuscle
These weaknessesThese weaknesses
lead to difficulty inlead to difficulty in
rising, climbingrising, climbing
stairs andstairs and
maintaining balance.maintaining balance.
15. Symptoms of DMDSymptoms of DMD
Delayed developmentalDelayed developmental
milestonesmilestones
Loss of motor skillsLoss of motor skills
Characteristic gaitCharacteristic gait
Calf hypertrophyCalf hypertrophy
Clumsiness/frequent fallsClumsiness/frequent falls
19. Prenatal diagnosisPrenatal diagnosis
This is achieved by studying the foetus’sThis is achieved by studying the foetus’s
own DNA on a chorion villus biopsy.own DNA on a chorion villus biopsy.
The test is performed on a tiny piece of theThe test is performed on a tiny piece of the
developing placenta usually at the 11developing placenta usually at the 11thth
–12–12thth
week of pregnancy.week of pregnancy.
Duchenne Becker Muscular dystrophy affects about one in every 3500 to 5000 newborn males.
One third of these boys have a previous relative with DMD. Two thirds of the cases are sporadic. There are two groups that make up the sporadic cases. In 1/3 of cases (or ½ of the sporadic cases), there was a genetic mutation in the mother’s egg or a genetic mutation early in embryo development that led to the condition. In the other 1/3 of cases (other ½ of sporadic cases), the mother is a carrier, but she is carrying a new mutation that occurred in either her mother’s egg, her father’s sperm, or early in her development. This explains the cases where a boy is born with Duchenne Becker muscular dystrophy into a family with absolutely no history of the condition. (1)
Graphic citation:
Microsoft Office Clipart 2002. [cited 23 June, 2005].
Hilda, this is from Katherines presentation. She had a similar slide and I took notes as she talked. I think that someone even asked about sporadic….
Symptoms usually begin to occur around 2-3 years of age. The boys may show delayed developmental milestones. For example, they are not sitting up or crawling when other boys their age begin.
Loss of motor skills may be apparent. Once they begin to walk, it may become more difficult as time goes on.
Boys tend to have a characteristic gait shown by walking on their toes. The Achilles' tendon becomes tight because of the muscle contraction in the calf and it is uncomfortable to bring the heel down. The calves will appear larger (hypertrophy). This is due to the loss of muscle being replaced with fat and connective tissue.
Finally, as the muscles weaken, the boys may appear clumsy and fall frequently. (1)
As the boy gets older, muscle weakness will become apparent. The calf muscles are the first to weaken, so walking up stairs or hills becomes difficult.
Gower’s sign is used in diagnosing the condition. This symptom shows the boy using his arms to get up from a sitting position because the leg muscles are too weak to allow for the task. (Click on the link and scroll down to Figure 2 to see Gower’s sign).
Finally, walking and running will become difficult. (1)
Link to Gower’s sign via the internet:
Kalra, V. Childhood Muscular Dystrophies [online]. 2005. [cited 2005 June 26]. Available from URL: http://www.indegene.com/Neu/FeatArt/indNeuFeatArt4.html?type=Neu