Myopathies Flashcards
Muscular dystrophies
Duchenne
Becker
FSHD (LandouzyxDéjérine)
Limb-girdle
Myotonic diseases
Myotonic dystrophy type 1
myotonic dystrophy type 2
Congenital myotonia
Metabolic myopathies and clinical presentation
Glicogen storage disease
lipid myopathies
Myoadenilate deaminase deficiency
Mitochondrial
Clinical presentation: slowly progressive myopathies, induced by muscle exercise
Duchenne muscular dystrophy mutation in
Dystrophy gen Xp21
Duchenne. Clinical presentation
Muscle hypertrophy, calf muscles
loss of independent ambulating by age 8 to 12
Contractures, scoliosis
Cardiomyopathy
Respiratory insufficiency
Death at the age of 29
Duchenne treatment
Corticoesteroids
Ataluren
Becker Mutation in
Dystrophy gen Xp21
Becker complications
Contractures, scoliosis, cardiomyopathy, respiratory insufficiency
Ataluren is
treatment for Duchenne and Becker
Facioscapulohumera MD gen affected
Chromosome 4q35. AD
In myotonic dystrophy are affected
Proteins DM1 (for type 1) DM2 (for type 2)
Pompe disease
Glycogen storage disease. GSD type 2
Muscle weakness (hypotonia, Floppy baby, head lag)
elevated plasma creatine kinase, AST an ALT. Increase glycogen.
Delayed motor milestone
Progressive weakening of skeletal muscles
Muscle atrophy (scoliosis, kyphosis, lordosis, scapular winging)
Enzyme McArdle
Myophosphorilase
Treatment of polymyositis
Corticosteroids
Methotrexate
Human immunoglobulines
Pompe’s disease. Early onset
Hypotonia and head lag
No swallowing
Cardiomegaly and cardiomyopathy
Epathomegaly
Liver disorder
Survival without treatment 2 years
Pompe’s disease. Late onset
Usually after 60 years
Proximal weakness
Hyperlordosis
Scapular wingings
Gower’s sign
Gait swinging
Pompe’s disease treatment
Myozyme
Myotonic distrophy. Clinical
Myotonia, muscle atrophy
Catarats
Disphagia
Mild cognitive deficit
Hypersommnolence
Apathy, depression, anxiety
Tachiaritmias
Facioscapulohumeral muscular atrophy. Clinal
No closing eye (can sleep with open eyes)
Limited movements of the lips
Difficulties raising the arms
Scapular winging more ehe abduction
Atrophy of biceps and triceps with normal deltoid
Asimmetry
Fascioscaphulohomeral muscular atrophy. Type of illness
Autosomic dominant, between 10-40 years
Mitocondrial disorders
Proximal muscle weakness, polyneuropathy, diabetes, hearing loss
Muscle biopsy: rade treak fibers
Limb girdle muscle dystrophy. Type of illness
Autosomal dominant. Age 20, 30
Limb girdle muscle dystrophy. Clinical
Weakness (often proximal muscle) without facial involvement. Is rare to involved hands
May be associated with cardiomyopathy or respiratory muscle weakness
Pelvic girdle is usually most affected, also shoulder
Spinal muscular atrophy type of illness
Autosomal recessive, proximal
Spinal muscular atrophy clinical
Progressive proximal limb and bulbar weakness, fasciculations of the facial musculature and tongue
Sensory neuropathy
Gynaecomastia, testicular atrophy, diabetes
Multifocal motor neuropathy
Weakness of wrist
No sensory loss
Hypertrophy in eminence tenar
No dorsiflexion
It is autoimmune
Treatment: IV immunoglobuline
