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Muscular dystrophy
- 1. MUSCULAR DYSTROPHYMUSCULAR DYSTROPHY Dr.Angelo Smith M.D WHPL
- 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
- 4. • Muscular dystrophyis 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.
- 8. Classification • Sex-linked: DMD,BMD, EDMD • Autosomal recessive: LGMD, infantile FSHD • Autosomal dominant: FSHD, distalMD, ocular MD, oculopharyngeal MD.
- 11. Duchenne Muscular Dystrophy GuillaumeBenjamin Amand Duchenne (French neurologist, 1860s)
- 12. • Etiology ▫ singlegene defect ▫ Xp21.2 region ▫ absent dystrophin
- 14. • Most common •male, Turner syndrome • 1:3500 live male birth • 1/3 new mutation • 65% family history
- 15. Clinical manifestation • Onset: age 3-6 years • Progressive weakness • Pseudohypertrophy of calf muscles • Spinal deformity • Cardiopulmonary involvement • Mild - moderate MR
- 16. Natural history • Progressslowly and continuously • muscle weakness ▫ lower --> upper extremities • unable to ambulate: 10 year (7-12) • death from pulmonary/ cardiac failure: 2-3rd de cade
- 19. Pseudohypertrhophy of calfmuscle, Tip toe gait forward tilt of pelvis, compensatory lordosis
- 20.
- 21. 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
- 26. Becker Muscular Dystrophy PeterEmil Becker (German doctor, 1950s)
- 27. • Milder versionof DMD • Etiology ▫ single gene defect ▫ short arm X chromosome ▫ altered size & decreased amount of dystrophin
- 29. • 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
- 30. Diagnosis • The sameas 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
- 32. 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
- 33. Scoliosis: common, lowincidence of progression Bradycardia, 1st degree AV block sudden death
- 34. • Diagnosis ▫ Gower’ssign ▫ 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.
- 35. 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
- 36. Limb - GirdleMuscular Dystrophy •Etiology ▫ Autosomal recessive at chromosome 15q ▫ Autosomal dominant at 5q •Epidemiology ▫ Common ▫ More benign
- 38. • Clinical manifestation ▫ Ageof onset: 3rd decade ▫ Initial: pelvic/shoulder m. (proximal to distal) ▫ Similar distribution as DMD
- 39.
- 40. •Classification ▫ Pelvic girdletype common ▫ Scapulohumeral type rare • Diagnosis ▫ Same clinical as DMD/BMD carriers ▫ Moderately elevated CPK ▫ Normal dystrophin
- 41. • Natural history ▫Slow progression ▫ After onset > 20 y: contracture & disability ▫ Rarely significant scoliosis • Treatment ▫ Similar to DMD ▫ Scoliosis: mild, no Rx.
- 42. 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
- 44. • Muscle weakness ▫face, shoulder, upper arm • Sparing ▫ Deltoid ▫ Distal pectoralis major ▫ Erector spinae
- 45. • “Popeye” appearance ▫ Lackof facial mobility ▫ Incomplete eye closure ▫ Pouting lips ▫ Transverse smile ▫ Absence of eye and forehead wrinkles POPEYE ARMS
- 46. • 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)
- 47. 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
- 49. 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
- 50. Clinical manifestation • Stiffnessof joint • Congenital hip dislocation, subluxation • Achillis tendon contracture, talipes equinovarus • Scoliosis
- 51. Diagnosis Muscle Bx: Perimysialand endomysial fibrosis Treatment Physical therapy Orthosis Soft tissue release Osteotomy
- 52. Oculopharyngeal Muscular Dystrophy • Autosomaldominant • Age of onset: 3rd decade • Ptosis in middle life • Pharyngeal involvement ▫ Dysarthria ▫ Dysphasia ▫ Repetitive regurgitation ▫ Frequently choking
- 53.
- 54. `Classical form' ofthe disease is seen in adolescent or early adult life with variable presenting features. • Muscular weakness, •myotonia, •mental retardation, •cataract, •neonatal problems •18% remain asymptomatic.
- 55. Summary Clinical DMD LGMDFSMD 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 -
- 56. Clinical DMD LGMDFSMD 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
- 58. Treatment is generally aimedat controlling the onset of symptoms to maximize the quality of life.