Myopathy for medical students
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This document discusses myopathies, which are muscle diseases. It classifies myopathies into hereditary and acquired categories. Hereditary myopathies include muscular dystrophies such as Duchenne's muscular dystrophy. Acquired myopathies can be inflammatory, endocrine, or drug-induced. Duchenne's muscular dystrophy is an X-linked recessive disorder affecting 1 in 3,500 male births. It is caused by a defect in the dystrophin gene and leads to progressive muscle weakness and atrophy. Symptoms begin in early childhood and worsen over time, ultimately resulting in death.
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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
- 2. EtiologicalEtiological Classification ofClassification of MyopathiesMyopathies HEREDITARYHEREDITARY MuscularMuscular DystrophiesDystrophies – Duchenne’sDuchenne’s MyotoniasMyotonias ACQUIREDACQUIRED InflammatoryInflammatory EndocrineEndocrine Drug-induced andDrug-induced and toxic myopathiestoxic myopathies – EtOH, steroids,EtOH, steroids, statinsstatins
- 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
- 7. InvestigationsInvestigations Muscle enzymesMuscle enzymes – Creatinine kinase [CK]Creatinine kinase [CK] – AldolaseAldolase ElectromyogramElectromyogram
- 8. InvestigationsInvestigations Muscle biopsy for pathologicalMuscle biopsy for pathological studystudy
- 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
- 17. Difficulty risingDifficulty rising (Gower’s sign)(Gower’s sign)
- 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.
- 21. FutureFuture
Editor's Notes
- 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