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Muscular dystrophy. an overview

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Muscular dystrophy
Muscular dystrophy
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Muscular dystrophy. an overview

  1. 1. Objectives  Objectives of this presentation is to share following aspects of Muscular dystrophy:  Etymology, Definition and Incidence.  Causes and Pathogenesis  Types.  Clinical features of different types.  Screening and diagnosis.  Management.
  2. 2. Etymology  Greek term –Dystrophy  Dys - Aberrent  Trophy-Nourishment (Aberrant growth or nutrition of muscle fibers)
  3. 3. Definition There is no single disease called MUSCULAR DYSTROPHY .The term designates a group of genetically determined progressive, primary disorders of muscle that vary in inheritance pattern. Age of onset, initial muscle attacked and the rate of progression.
  4. 4. Incidence  Mostly affects boys (rarely girls)  1 in 35000 male births (DMD)  5.4 IN 100,000 MALE BIRTHS (BMD)
  5. 5. Causes  Genetic deficiency of the muscle protein Distrophin.  Inherited defective gene.  New mutation in a gene rather than an inherited defective gene. Distrophin:  Primary product of DMD gene.  High molecular weight cyto skeletal protein.  Occurs in skeletal muscle ,smooth muscle, brain, peripheral nerves and several other tissues.
  6. 6. Pathogenesis As muscular dystrophy is a genetic disorder with deletation mutation affecting the xp 21 region on short arm of X chromosome, distrophin encoded by this genelocus, is absent. Distrophinis apart of large complex of sarcolemmal protein and glycoprotein and lack of distrophin leads to osmotic fragility of muscle fiber.
  7. 7. Muscle fibres become more succeptible to damage Sarcolemma damage Leakage of creatinine kinase Take of excess calciam Cause further damage Necrosis of muscle fibres (voluntary muscles initially) Phagocytosis of degenarating fibres Replacement of small muscle fibres which are rich in fat and connective tissues Interstitial fiborsis(contracture formation) Finally involvement of other organs and involuntary muscles MUSCULAR DYSTROPHY
  8. 8. TYPES Each type of muscular dystrophy is a distinct entity having difference in inherita-nce pattern, age of onset, clinical features, other system involvement and clinical course.
  9. 9. TYPE GENET ICS AGE OF ONSET INVOLVEMENT PROGRESSI ON Duchenne's XR 2-5 years Pelvic girdle Fast Beker's XR 8-10 years Pelvic girdle Slow Emery- Driefuss XR/AD 5-15 years Biceps,tirceps and peroneal muscles Slow Limb-girdle AR/DR 10-30 years Pelvic/shoulder girdle Slow Congenital AR Newborn period Generalized Slow Distal AR/DR 12-30 yeare Gastronemius slow Fascio- Scapulo- Humoral AD Adolescent Face,shoulder and upper arm Variable Myotonic dystrophy AD Newborn period-adult Face,sternocledomastoidand girdle muscle slow
  10. 10. CLINICAL FEATURES -Vary according to the type of muscular dystrophy.In general they may include:- -Muscle weakness. -apparent lack of coordination. -Progressive creeping,resulting in contracturesof musclesadn loss of mobility. C/F OF DIFFERENT TYPE OF M.D. Dystrophies-These type of M.D. are due to genetic deficiency of muscle protein DYSTROPHIN viz. *Duchenne M D. *Becker M.D.
  11. 11. DUCHENNE MD Early menifestations- 1.First sings appear around age 2-5 years. 2.The child may appear clumsy while walking. 3.Tiptoe walking and frequent falls. 4.Waddling gait with a compensatory lumbar lordosis. 5.Difficulty in getting up from lying or sitting position. 6.Difficulty in climbing up stairs and raise the hand above the shoulder or comb the hair. 7. Hypertrophy of calf muscle(at 4-5 years). Gowers sign:-It is early common sign of M.D.To get up from the ground,the child WALK up his thighs with his hand. It indicates weakness of pelvic girdle muscle.
  12. 12. GOWER'S SIGN
  13. 13. Late menifestation 1.Problem get steadily worse over the next several years. 2.Muscle weakness first affect feet,front of thighs,hips,belly,shoulder and elbow, later it affects hand,face and neck muscle. 3.Tendon reflexs are sluggish or absent. 4.Development of contactures. 5.Most children become unable to walk by age 10. 6.Wheel chair dependancy occurs by age 12. 7.Also develop severe curve of spine. 8.Other system involvement- *Cardiac involvement-(Fibrosis– posterio-basal portion of left ventricular walls)- -onset usually after the age of 10 years. -Cardiomyopathy develops(almost all patient) beyond the age of 18 years. -Congestive cardiac failure and arrythmias. -In 10% cases death occur due to cardiac dysfunction.
  14. 14. Respiratory involvement:- -Resiratory muscle weakness including diaphragm. -pulmonary insufficiency and resp. infection(pneumonia). -Death at about late teens or early 20‘s. GIT involvement :- -Acute gastric dilatation(Intestinal pseudo obstruction) -Sudden episode of vomiting with pain and distension. -Leads to death . Nervous system involvement:- -The mean IQ is 80. -1/3 of children having IQ below 75. -25% of frank mental defect.
  15. 15. BECKER MD Milder form of dystrophinopathies. -Generally affect older boys and young men. -Early onset-between age 5-15. -Although an onset in third and fourth decade or even later can occur. -Patient ambulate beyond age 15 and often well into adulthood. -Progresses more slowely usually over several decades. -s/s of BMD are similar to those of DMD. EMERY-DRIEFUSS M.D.- -Usually begins at shoulders, upper arm, shins etc. -Contractures develops at elbow,ankle,neck,spine etc. -Cardiomyopathy,cunduction disturbance. -Begin at childhood to early teen years and progresses slowly into adult life.
  16. 16. LIMB- GIRDLE MD(LGMD) -Caused due to sacroglycanopathies.(mutation in sarcoglycan gene) -First demonstrate weakness in limbs,girdle(pelvic-pectoral) muscle. -Gradually involves facial,extraocular and pharyngeal muscle. -Calf hypertrophy present. -Cardiomyopathy less predictable. -Progress slowly from early childhood to adulthood. - DISTAL MD- -Involvement of muscles farthes away from centre of body. -Muscles of hand,forearm,feet and lower leg. -less severe and slow progress. -begin in adulthood between the age of 40 and60
  17. 17. CONGENITAL MD -At birth or first few weeks of birth. -Hypotonia and proximal muscular weakness(non-progressive). -Most affected children eventually may able to stand with support or few learn to walk. -Joint contractures develops. -CNS involvement is prominent. -(Muscle biopsy:-marked elevation oin endomysial and perimysial connective tissue. Western blot:- deficiency of merosin. MRI:- white matter change. Chorionic villous material for prenatal diagnosis) Fukuyama CMD- in Japenese, Dutch,German children. -associated with cardiomyopathy,mental retardation,seizures and growth failure.
  18. 18. FASCIO-SCAPULOHUMORAL MD -Menifest around puberty. -Involvement of facial,shoulder and proximal arm muscle. -Winging and elevation of scapulae occur. -Footdrop occur. -Hypertrophy does not occur. -Progress of weakness is slow. -Pelvic-girdle involvement late and less. -Cadiomyopathic and neurogenic changes occur.
  19. 19. MYOTONIC DYSTROPHY -Multisystem disorder(cardiac,CNS,endocrine,etc). -Muscular weakness with myotonia. -Neonate has tented upper lips,difficulty in sucking and swallowing. -Generalized hypotonia -Respiratory distress. -Delayed motor development. -Mental retardatiopn. -Immunodeficiancy. Other symptoms- ptosis, opthalmoplegia, cardiac conduction disturbance, dysphagia, aspiration, constipation, diarroea, etc. also frontal balding in men, mild diabetes. Differential Diagnosis- 1 Myopathies. 2 Polyneuritis 3 Warding Haffman disease. 4 Endocrine myopathies. 5 Glycogen storage disease of muscle. 6 Poliomylities. 7 Cerebral palsy etc.
  20. 20. SCREENING AND DIAGNOSIS Lab diagnosis- Blood test- serum CPK level- elevated upto 15000-20000 U/l(20-100 times higher than normal). Level may reduce in advance disease. Detection of CPK can diagnose 2/3 carrier female. Electromyography(EMG)- Decreased amplitude and duration of motor unit potential. -Increased frequency of polyphasic potential . Histopathology(muscle biopsy) -Muscle fibres shows diffuse changes of degeneration and regeneration. Immunohistochemistry- Dystrophin deficiency and mutation analysis on peripheral blood leukocytes. Gene testing- By multiplex PCR for gene detection.
  21. 21. MANAGEMENT There is currently no defenative treatment.But such a management can be designed which help to prevent the contractures, reduce the deformities and allow the patient to remain mobile as long as possible.Treatment may include- 1. Various type of physiotherapy 2. Medication 3. Assistance devices 4. Surgery 5. Gene therapy
  22. 22. 1.PHYSIOTHERAPY -Encourage ambulation with various type of physiotherapy, exercise and daily walking. -Exercise-*Stretching - 20 min. twice daily to prevent contractures. * Walking - to provide regular range of motion of joint and prevent contractures. *Respiratory -as shouting climbing and breathing exercise.
  23. 23. 2.MEDICATION - Myotonic MD- Mexiletine,Phenytoin,Carbamezapine, Quinine and procanamide etc. may be used to treat delayed muscle relaxation. - Duchenne MD- -The only useful drug is prednisolon(to improve muscle strength and delayed progression). -Dose-0.75mg/kg/day for 10 days every month. - Continue the drug as long as child is ambulatory. -Another drug-Oxandrolone-0.1mg/kg/day for 3 months.(synthetic testerone derivative) -Other symptom- 1-Cardiomyopathy, CCF (conventional management) 2-Respiratory disorder- antibiotic therapy for infection. -To vaccinate for pneumonia and H. influenzae. -Newer modalities- Delfazacort, albuterol, creatine, gentamycin,calciam channel blocker and Q 10 can be used.
  24. 24. 3.ASSISTIVE DEVICES a) Braces-To provide support for weak muscle. -To keep muscle tendon stretched and flexible. -For slowing the progression of contracture. . b)Canes, walker and wheelchairs- To maintain mobility and independence
  25. 25. c) Splints, sand bags etc- To keep patient walking better by ankle splints. -Sand bags will help to press down the legs and help strengthen them if the contractures of hip and knees begin to develop. 4. Surgery-a) Tendon realease surgery – To relieve tendons of hip, knees and achillies so as release the developed contractures. -Surgery to correct the curvature of spine (scoliosis).
  26. 26. COPING SKILLS
  27. 27. T 

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