Myopathies

Question 1

Muscular dystrophies

Answer 1

Duchenne
Becker
FSHD (LandouzyxDéjérine)
Limb-girdle

Question 2

Myotonic diseases

Answer 2

Myotonic dystrophy type 1
myotonic dystrophy type 2
Congenital myotonia

Question 3

Metabolic myopathies and clinical presentation

Answer 3

Glicogen storage disease
lipid myopathies
Myoadenilate deaminase deficiency
Mitochondrial
Clinical presentation: slowly progressive myopathies, induced by muscle exercise

Question 4

Duchenne muscular dystrophy mutation in

Answer 4

Dystrophy gen Xp21

Question 5

Duchenne. Clinical presentation

Answer 5

Muscle hypertrophy, calf muscles
loss of independent ambulating by age 8 to 12
Contractures, scoliosis
Cardiomyopathy
Respiratory insufficiency
Death at the age of 29

Question 6

Duchenne treatment

Answer 6

Corticoesteroids
Ataluren

Question 7

Becker Mutation in

Answer 7

Dystrophy gen Xp21

Question 8

Becker complications

Answer 8

Contractures, scoliosis, cardiomyopathy, respiratory insufficiency

Question 9

Ataluren is

Answer 9

treatment for Duchenne and Becker

Question 10

Facioscapulohumera MD gen affected

Answer 10

Chromosome 4q35. AD

Question 11

In myotonic dystrophy are affected

Answer 11

Proteins DM1 (for type 1) DM2 (for type 2)

Question 12

Pompe disease

Answer 12

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)

Question 13

Enzyme McArdle

Answer 13

Myophosphorilase

Question 14

Treatment of polymyositis

Answer 14

Corticosteroids
Methotrexate
Human immunoglobulines

Question 15

Pompe’s disease. Early onset

Answer 15

Hypotonia and head lag
No swallowing
Cardiomegaly and cardiomyopathy
Epathomegaly
Liver disorder
Survival without treatment 2 years

Question 16

Pompe’s disease. Late onset

Answer 16

Usually after 60 years
Proximal weakness
Hyperlordosis
Scapular wingings
Gower’s sign
Gait swinging

Question 17

Pompe’s disease treatment

Answer 17

Myozyme

Question 18

Myotonic distrophy. Clinical

Answer 18

Myotonia, muscle atrophy
Catarats
Disphagia
Mild cognitive deficit
Hypersommnolence
Apathy, depression, anxiety
Tachiaritmias

Question 19

Facioscapulohumeral muscular atrophy. Clinal

Answer 19

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

Question 20

Fascioscaphulohomeral muscular atrophy. Type of illness

Answer 20

Autosomic dominant, between 10-40 years

Question 21

Mitocondrial disorders

Answer 21

Proximal muscle weakness, polyneuropathy, diabetes, hearing loss
Muscle biopsy: rade treak fibers

Question 22

Limb girdle muscle dystrophy. Type of illness

Answer 22

Autosomal dominant. Age 20, 30

Question 23

Limb girdle muscle dystrophy. Clinical

Answer 23

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

Question 24

Spinal muscular atrophy type of illness

Answer 24

Autosomal recessive, proximal

Question 25

Spinal muscular atrophy clinical

Answer 25

Progressive proximal limb and bulbar weakness, fasciculations of the facial musculature and tongue
Sensory neuropathy
Gynaecomastia, testicular atrophy, diabetes

Question 26

Multifocal motor neuropathy

Answer 26

Weakness of wrist
No sensory loss
Hypertrophy in eminence tenar
No dorsiflexion
It is autoimmune
Treatment: IV immunoglobuline