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muscular dystrophy.pptx
Muscular dystrophy is a heterogeneous group of inherited disorders that cause progressive muscle weakness and loss of muscle tissue from degenerative changes. The main types are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), both of which are sex-linked recessive disorders caused by defects in the dystrophin gene on the X chromosome. DMD is the most common and severe form, affecting 1 in 3,500 live male births, with symptoms starting in early childhood and leading to death in the 2nd or 3rd decade without respiratory or cardiac support. BMD is a milder version of DMD with a later onset and slower progression.
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muscular dystrophy.pptx
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- 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 weakness and loss of muscle by progressive degenerative 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 DMD, BMD, • Sex-linked: 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 decade
- 19. Pseudohypertrhophy of calfmuscle, Tip toe gait forward tilt of pelvis, compensatory lordosis
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- 21. DMD: Diagnosis • Gait •Absent DTR • Ober test • Thomas test • Meyeron sign - child slips through truncal grasp • Macroglossia • IQ ~ 80 • IncreaseCPK (200x) • Myopathicchangein EMG Bx:m. degeneration • Immunoblotting: Absencedystrophin • Myocardial deterioration • DNA mutation analysis
- 23. Becker Muscular Dystrophy PeterEmil Becker (German doctor, 1950s)
- 24. • Milder versionof DMD • Etiology ▫ single genedefect ▫ short arm X chromosome ▫ altered size & decreased amount of dystrophin
- 25. • 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
- 26. 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