MUSCULAR DYSTROPHIES Characteristics: 1-slowly progressive 2-myopathy(EMG-clinic-patholo 3-no metabolic storage 4-symptoms are due to weakne

5-hereditable 6-specific muscular weakness? 7-no treatment CLASSIFICATION: Duchenne MD-FSHMD- Dystrophia Myatonica

Differentiation : age-distribution of weakness-elevation of CK-speed of progression-hypertrophy Laboratory Diagnosis: EMG-Biopsy-DNA Analysis every myopathy----ECG-Serum CK

x linked Muscular Dystrophies: Duchenne MD: incidence:1/3500 1/3 new mutation prevalence:1/18000 female: carrier beginning of symptims:3-5years

deleyed of walking-toe walking- waddeling gait-Gowers sign- hyperlordosis-facial weakness- intactness of eye movement& speech&swallowing-scoliosis- contracture of iliotibalis&knee&arm

impairment of breathing-clinical intactness of heart&GI-MR(1/3)- D.D:SMA Becker MD :Incidence 1/20000 hyper CK emia-hypertrophy of calf EMG&Pathology=Duchenne “”&

Age of beginning:12 years slower progressive than Duchenn D.D:SMA-Acid maltase deficiency- Phosphorilase deficiency- Carriers-Idiopathic hyperCKemi -Hepatitis

TREATMENT :Prednisolone Creatin -Myoblast Brace-surgery-PT- Supporting-Heart graft EMERY DERIFUSS M.D: 1-Humeroproneal weakness

2-Contracture of knee &elbow &fingers & anckle 3-heart block (pacemaker ) 4-xq28 FSH MD: adolecent-AD-normal CK Chromosome 4-

Symptoms :1-facial weakness 2-winging of scapula 3-weakness of trapezius 4-biceps weaker triceps 5-Popey effect (upper arm is thinner forearm) 6-leg weakness

Prognosis :slow progressive Laboratory findings: EMG &Biopsy----Myopathy serum CK-----normal ECG normal Treatment: Symptomatic-Albuterol (B2 adrenergic)-wiring ;

MYASTHENIA GRAVIS; 1-Juvenil&Adult:2th-4thdecade anti Ach R---85% Seronegative ---- prepuberty 2-Neonatal MG----12%neonates floppy limbs-weakened cry - sucking is impaired

Mothers are sick-presence of Ab in both-improvement after weeks Congenital MG: Mother is asymptomatic Ophthalmoplegia-No Ab Weakness of extensors

Drug induced MG: Penicillamin Trimethadion Pathology: Hyperplasia of thymus( 70%)-thymoma(10%) local invasive &old age -Lymphorrhagia(50%)

Incidence:<40years F/M=3/1 >40years F=M Prevalence:14/ Familial (rarely) HLA B8-DR3-DQB1 HLA A12(Japan ) SLE-RA-Thyroid disease

Symptoms:1-flactuation of weakness remission & exacerbation Crisis 2-Distibution of weakness Eye muscles 40-85% Dysarthria - Dysphagia- Weakness of facial

---Symptoms; limbs &cervical weak crisis 3-Response to cholinergic drugs MG is limited (ocular MG for 2years) Mortality :rarely

Signs: PE&VS are normal expressionless face-INO Limb weakness- ptosis- - diplopia PFT disturbance-wastng(10% normal DTR&Sensory

Laboratory Findings: Normal (U/A-Serum-CSF)Routin Jolly test 90% abnormal MEP decreased(20% of normal) SFEMG---increase of jitter (blocking) NCV&EMG---Normal 7

Ab—Generalized 85-90% positive Ocular 50-60% positive Antimyofibrilar(Titin-myosin-actin- actomyosin)85% 5%hyperthyroidism CXR oblique 15%positive(thymom

CT scan of mediastina 100%positiv Diagnosis:Tensilon&prostigmin test TREATMENT: 1-Anticholinstrase 2-Plasmaphresis 3-Thymectomy 4-Steroids 5-Immunosupressive

Polymyositis Disorder of skeletal muscle of diverse causes --- acute or sub acute onset Clinical Manifestation : progressive limb and neck muscles weakness – distal M are usually affected later – eyelids & ocular movements spared– dysphagia usually without disarthria

Systemic symptoms not evident -arthralgia – weight loss - Malaise Raynaud symptoms- no rash of DM –no visceral lesion –myocarditis may accure –may persist for years Laboratory data : EMG myopathic no fasciculation –NCV normal –CK 10 times Biopsy:CD8 Tlymphocyte muscle

Pathogenesis : autoimmune disease (cellular) association of PM with Crohn –biliary cirrhosis sarcoidosis –MG with thymoma and candidiasis – graft versus host disease – HIV &HTLV1 viral disease Diagnosis : 1) no familial history 2) progress from onset peak weeks or months 3) >35 y 4)may improve spontaneusly or with therapy 5)proximal and neck weakness &dysphagia

6)Arthralgia.myalgia and Raynaud symptoms 7)EMG findings D D : PM with DM --- 1) DM most often homogeneus condition only rarely associated with a known cause other than carcinoma. PM 50% associated with some other systemic dis 2) PM is often a manifestation of a specific collagen vascular disease ( SLE,,,,, ) DM rarely associated with collagen disease

3) DM ocure at all ages ; PM is rare before puberty 4)myopathy of DM is sever more often than PM 5) DM is far more likely to be associated with malignancy than PM Therapy : Steroids -- immunosuppressive IVIG --Infliximab