Transcript Myopathy and muscular dystrophy

Myopathy and muscular
dystrophy
Dr. abeer kawther
Myopathy:
All 1ry dis. of muscles.
-genetically determined
-congenital
-metabolic
-drug induced
-inflamatory
Genetically determined myopathy
Muscular dystrophy:
Progressive degeneration of groups of muscles,
symmetrical, no fasciculation, reflexes preserved, no
loss of sensations, normal nervous system.
Types:
Duchenne dyst.
Spinal muscular dyst.: -Werding-Hoffman
-Kugelberg-Welander
-Adult forms
Duchenne dyst.:
-incidence 20-30\100,000 live male births
-x-linked recessive
-65% mothers carriers
-Abn. Sarcolemma
ingress of ca
muscle necrosis
Clinical features:
-presentation 1-3 yrs of age
-delayed motor development, frequent falls,inability to run
-affection of proxymal muscles of L.L. &then of U.L. Starts by
pseudohypertrophy &later contractures
-Gower`s manover, waddling gait
-death at age of20 from resp. infection
-intellect affected in 20%of cases
Becker dystrophy:
Milder form of Duchenne
Spinal muscular atrophy
Death of ant. Horn cell of unknown cause
Adult forms:
1-Limb girdle type(scapulohumeral):
-autosomal ressive
-2nd &3rd decade
-starts in shoulder or pelvic girdle & later involves both
2-Facioscapulohumeral(Landozy-Dejerne):
-autosomal dominant
-any age
-1st facial muscle then shoulder girdle &later pelvic girdle
-compatible with long life
Investigation for muscular dystrophy
-EMG
-Muscle biopsy
-CPK &aldolase
Management
-no
-Co enzyme Q10
-physiotherapy &orthop[dic measers
Myotonic disorders
Consists of slow relaxation of muscles
1)Myotonia dystrophica
2)Myotonia congenita
Myotonia dystrophica:
-autosomal dominant
-presentation at adult life
-ptosis, wasting of temporalis, sternomastoids, arms, legs
-associated with :cataracts, frontal baldness, testicular or ovarian
atrophy
-death from cardiac or resp. insufficincy
Diagnosis
-EMG
-muscle biopsy
-dis. Located at long arm of chromosome 19
Management
Prcainamide, quinine, phenytoin
Congenital myotonic dystrophy:
Babies born to mothers with myotonia dystrophica
Myotonia congenita
-autosomal domoninant or ressive
-begins early in childhood
Congenital myopathy
-Central cor disease
-Nemaline myopathy
Metabolic myopathy
-thyrotxicosis
-cushing
-familial periodic paralysis
-Glycogen storage dis.
-mitrochondrial dis.
Drug induced
Lithium, betablockers, alcohol, steroids
Inflamatory myopathy
Viral myositis
Connective tissue dis.
-polymyositis \ dermatomyositis
-polymyalgia rhumatica