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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:14/100000
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