muscular dystrophy

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MUSCULAR DYSTROPHY MUSCULAR DYSTROPHY Dr. Angelo Smith M.D WHPL

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Muscular weakness, wasting of muscles.

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  • 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 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. Classification Sex-linked: DMD, BMD, EDMD Autosomal recessive: LGMD, infantile FSHD Autosomal dominant: FSHD, distalMD, ocular MD, oculopharyngeal MD. 5. Duchenne Muscular Dystrophy Guillaume Benjamin Amand Duchenne (French neurologist, 1860s) 6. Etiology single gene defect Xp21.2 region absent dystrophin 7. Most common male, Turner syndrome 1:3500 live male birth 1/3 new mutation 65% family history 8. Clinical manifestation Onset : age 3-6 years Progressive weakness Pseudohypertrophy of calf muscles Spinal deformity Cardiopulmonary involvement Mild - moderate MR 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. Pseudohypertrhophy of calf muscle, Tip toe gait forward tilt of pelvis, compensatory lordosis 11. Disappearance of lordosis while sitting 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. Becker Muscular Dystrophy Peter Emil Becker (German doctor, 1950s) 14. Milder version of DMD Etiology single gene defect short arm X chromosome altered size & decreased amount of dystrophin 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. Diagnosis The same as DMD Increase CPK ( 40 degrees Cardiologic intervention Cardiac pacemaker 21. Limb - Girdle Muscular Dystrophy Etiology Autosomal recessive at chromosome 15q Autosomal dominant at 5q Epidemiology Common More benign 22. Clinical manifestation Age of onset: 3rd decade Initial: pelvic/shoulder m. (proximal to distal) Similar distribution as DMD 23. Hemiatrophy 24. Classification Pelvic girdle type common Scapulohumeral type rare Diagnosis Same clinical as DMD/BMD carriers Moderately elevated CPK Normal dystrophin 25. Natural history Slow progression After onset > 20 y: contracture & disability Rarely significant scoliosis Treatment Similar to DMD Scoliosis: mild, no Rx. 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. Muscle weakness face, shoulder, upper arm Sparing Deltoid Distal pectoralis major Erector spinae 28. Popeye appearance Lack of facial mobility Incomplete eye closure Pouting lips Transverse smile Absence of eye and forehead wrinkles POPEYE ARMS 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. 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. 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. Clinical manifestation Stiffness of joint Congenital hip dislocation, subluxation Achillis tendon contracture, talipes equinovarus Scoliosis 33. Diagnosis Muscle Bx: Perimysial and endomysial fibrosis Treatment Physical therapy Orthosis Soft tissue release Osteotomy 34. Oculopharyngeal Muscular Dystrophy Autosomal dominant Age of onset: 3rd decade Ptosis in middle life Pharyngeal involvement Dysarthria Dysphasia Repetitive regurgitation Frequently choking 35. Myotonic Muscular Dystrophy HATCHET FACIES 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. 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. 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. Treatment is generally aimed at controlling the onset of symptoms to maximize the quality of life.