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Muscular dystrophy

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Muscular weakness, wasting of muscles.

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Muscular dystrophy

  1. 1. MUSCULAR DYSTROPHYMUSCULAR DYSTROPHY Dr. Angelo Smith M.D WHPL
  2. 2. • Causes • Inheritance • Dominant genes • Recessive gene Depends on the age when symptoms appear, and the types of symptoms that develop. • Risk • Because these are inherited disorders, risk include a family history of muscular dystrophy How Many People Are Affected It is estimated that between 50,000 -250,000 are affected annually. 1 per 3500 live male births
  3. 3. • Muscular dystrophy is a heterogeneous group of inherited disorders recognized by progressive degenerative muscle weakness and loss of muscle tissue (started in childhood). • Affect muscles strength and action. • Generalized or localized. • Skeletal muscle and other organs may involve • Limitation: Difficulties with walking or Maintaining posture, Muscle spasms. Neurological, Behavioral, Cardiac, or other Functional limitations.
  4. 4. Classification • Sex-linked: DMD, BMD, EDMD • Autosomal recessive: LGMD, infantile FSHD • Autosomal dominant: FSHD, distalMD, ocular MD, oculopharyngeal MD.
  5. 5. Duchenne Muscular Dystrophy Guillaume Benjamin Amand Duchenne (French neurologist, 1860s)
  6. 6. • Etiology ▫ single gene defect ▫ Xp21.2 region ▫ absent dystrophin
  7. 7. • Most common • male, Turner syndrome • 1:3500 live male birth • 1/3 new mutation • 65% family history
  8. 8. Clinical manifestation • Onset : age 3-6 years • Progressive weakness • Pseudohypertrophy of calf muscles • Spinal deformity • Cardiopulmonary involvement • Mild - moderate MR
  9. 9. Natural history • Progress slowly and continuously • muscle weakness ▫ lower --> upper extremities • unable to ambulate: 10 year (7-12) • death from pulmonary/ cardiac failure: 2-3rd de cade
  10. 10. Pseudohypertrhophy of calf muscle, Tip toe gait forward tilt of pelvis, compensatory lordosis
  11. 11. Disappearance of lordosis while sitting
  12. 12. DMD: Diagnosis • Gait • Absent DTR • Ober test • Thomas test • Meyeron sign - child slips through truncal grasp • Macroglossia • Myocardial deterioration • IQ ~ 80 • Increase CPK (200x) • Myopathic change in EMG Bx: m. degeneration • Immunoblotting: Absence dystrophin • DNA mutation analysis
  13. 13. Becker Muscular Dystrophy Peter Emil Becker (German doctor, 1950s)
  14. 14. • Milder version of DMD • Etiology ▫ single gene defect ▫ short arm X chromosome ▫ altered size & decreased amount of dystrophin
  15. 15. • Less common ▫ 1: 30000 live male birth • Less severe • Family history: atypical MD • Similar & less severe than DMD • Onset: age > 7 years • Pseudohypertrophy of calf • Equinous and varus foot • High rate of scoliosis • Less frequent cardiac involvement Clinical features
  16. 16. Diagnosis • The same as DMD • Increase CPK (<200x) • Decrease dystrophin and/or altered size Natural history ▫ Slower progression ▫ ambulate until adolescence ▫ longer life expectancy Treatment ▫ the same as in DMD ▫ forefoot equinous: plantar release, midfoot dorsal- wedge osteotomy
  17. 17. Emery-Dreifuss Muscular Dystrophy • Etiology ▫ X-linked recessive ▫ Xq28 ▫ Emerin protein (in nuclear membrane) • Epidemiology ▫ Male: typical phenotype ▫ Female carrier: partial • Clinical Features ▫ Muscle weakness ▫ Contracture  Neck extension, elbow, achillis tendon
  18. 18. Scoliosis: common, low incidence of progression Bradycardia, 1st degree AV block  sudden death
  19. 19. • Diagnosis ▫ Gower’s sign ▫ Mildly/moderately elevated CPK ▫ EMG: myopathic ▫ Normal dystrophin • Natural history ▫ 1st 10 y: mild weakness ▫ Later: contracture, cardiac abnormality ▫ 5th-6th decade: can ambulate ▫ Poor prognosis in obesity, untreated equinus contractures.
  20. 20. Treatment • Physical therapy ▫ Prevent contracture: neck, elbow, paravertebral muscles ▫ For slow progress elbow flexion contracture • Soft tissue contracture ▫ Achillis lengthening, posterior ankle capsulotomy + anterior transfer of tibialis posterior • Spinal stabilization ▫ For curve > 40 degrees • Cardiologic intervention ▫ Cardiac pacemaker
  21. 21. Limb - Girdle Muscular Dystrophy •Etiology ▫ Autosomal recessive at chromosome 15q ▫ Autosomal dominant at 5q •Epidemiology ▫ Common ▫ More benign
  22. 22. • Clinical manifestation ▫ Age of onset: 3rd decade ▫ Initial: pelvic/shoulder m. (proximal to distal) ▫ Similar distribution as DMD
  23. 23. Hemiatrophy
  24. 24. •Classification ▫ Pelvic girdle type  common ▫ Scapulohumeral type  rare • Diagnosis ▫ Same clinical as DMD/BMD carriers ▫ Moderately elevated CPK ▫ Normal dystrophin
  25. 25. • Natural history ▫ Slow progression ▫ After onset > 20 y: contracture & disability ▫ Rarely significant scoliosis • Treatment ▫ Similar to DMD ▫ Scoliosis: mild, no Rx.
  26. 26. Fascioscapulohumeral Muscular Dystrophy • Etiology ▫ Autosomal dominant ▫ Gene defect (FRG1) ▫ Chromosome 4q35 • Epidemiology ▫ Female > male • Clinical manifestation ▫ Age of onset: late childhood/ early adult ▫ No cardiac, CNS involvement ▫ Winging scapula ▫ Markedly decreased shoulder flexion & abduction ▫ Horizontal clavicles ▫ Rare scoliosis
  27. 27. • Muscle weakness ▫ face, shoulder, upper arm • Sparing ▫ Deltoid ▫ Distal pectoralis major ▫ Erector spinae
  28. 28. • “Popeye” appearance ▫ Lack of facial mobility ▫ Incomplete eye closure ▫ Pouting lips ▫ Transverse smile ▫ Absence of eye and forehead wrinkles POPEYE ARMS
  29. 29. • Diagnosis ▫ PE, muscle biopsy ▫ Normal serum CPK • Natural history ▫ Slow progression ▫ Face, shoulder m.  pelvic girdle, tibialis ant ▫ Good life expectancy • Treatment ▫ Posterior scpulocostal fusion/ stabilization (scapuloplexy)
  30. 30. Distal Muscular Dystrophy • Autosomal dominant trait • Rare • Dysferlin (mb prot) defect • Age of onset: after 45 yrs • Initial involvement: intrinsic hands, claves, tibialis posterior • Spread proximally • Normal sensation
  31. 31. Congenital Muscular Dystrophy • Etiology ▫ Autosomal recessive ▫ Integrin, fugutin defect • Epidemiology ▫ Rare ▫ Both male and female • Classification ▫ Merosin-negative ▫ Merosin-positive ▫ Neuronal migration  Fukuyama  Muscle eye-brain  Wlaker-Warburg
  32. 32. Clinical manifestation • Stiffness of joint • Congenital hip dislocation, subluxation • Achillis tendon contracture, talipes equinovarus • Scoliosis
  33. 33. Diagnosis Muscle Bx: Perimysial and endomysial fibrosis Treatment Physical therapy Orthosis Soft tissue release Osteotomy
  34. 34. Oculopharyngeal Muscular Dystrophy • Autosomal dominant • Age of onset: 3rd decade • Ptosis in middle life • Pharyngeal involvement ▫ Dysarthria ▫ Dysphasia ▫ Repetitive regurgitation ▫ Frequently choking
  35. 35. Myotonic Muscular Dystrophy HATCHET FACIES
  36. 36. `Classical form' of the disease is seen in adolescent or early adult life with variable presenting features. • Muscular weakness, •myotonia, •mental retardation, •cataract, •neonatal problems •18% remain asymptomatic.
  37. 37. Summary Clinical DMD LGMD FSMD DD CMD Incidence common less Not common Rare Rare Age of onset 3-6 y 2nd decade 2nd decade 20-77 y At/ after birth Sex Male Either sex M = F Either sex Both Inheritance Sex-linked recessive AR, rare AD AD AD Unknown Muscle involve. Proximal to distal Proximal to distal Face & shoulder to pelvic Distal Generalized Muscle spread until late Leg, hand, arm, face, larynx,eye Upper ex, calf Back ext, hip abd, quad Proximal -
  38. 38. Clinical DMD LGMD FSMD DD CMD Pseudo hypertrophy 80% calf < 33% Rare no No Contracture Common Late Mild, late Mild, late Severe Scoliosis Kyphoscoliosis Common, late Late - - ? Heart Hypertrophyt achycardia Very rare Very rare Very rare Not observed Intellectual decrease Normal Normal Normal ? Course Stead, rapid Slow Insidious benign Steady
  39. 39. Treatment is generally aimed at controlling the onset of symptoms to maximize the quality of life.

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