CC6: Diseases of Muscle Flashcards
Gower’s sign and calf hypertrophy, Achille’s tendon contraction and high Creatine Kinase level
Duchenne Muscular distrophy
Duchenne muscular dystrophy symptons:
1.Onset in childhood
2.x linked recessive
3. calf hypertrophy
4. high CK
5. cardio late issues
What is Duchenne m.d. related with what mutation?
x linked recessive mutation
Clinical evalutation of myopathies, check for:
proximal weakness
Creatine kinease elevated
EMG, NCS
sensory signs
progressive
Largest known human gene: 79 exons
dystrophin
mutations of dystrophin?
deletions and duplications
an example of a milder dystrophinopathy:
Becker’s MD
Limb girdle symptoms:
weakness in proximal muscles
dysfunctional sarcolemma
many gene etiologies
proteins of LGMD:
sarcoglycans
miofibrils
caveolins
dystrophin
dysferlin
High creatine kinase, hand cramping, early cataracts, branch block
Myotonic Dystrophy - DM1
most prevalent inherited neuromuscular disease in adults
DM1 - myotonic dystrophy
Cramp-like phenomenon with involuntary persistent muscle contraction
myotonia
DM1
myotonic dystrophy protein product:
DMPK affected by CTG repeats
floppy baby, hypotonnic weak, weak suck, develop delay
congenital myopathies
hoow to check for diagnosis of a congenital myopathies:
muscle biopsy, genetical test
examples of congenital myopthies:
centronuclear - myotubular
nemaline - rod body
central core
muscle pain dark urine, CK changes, muscle cramping
metabolic myopathies
examples of metabolic myopathies
thyroid
glycogen metabolism
lipid
mitochondrial
ion channel
myo- phosphorylase deficiency
McCardle’s disease
innefective glucose metabolism in muscle causing cramps
McCardle’s disease
McCardle’s disease causes:
glycogen accumulation in muscle
Ineffective lipid metabolism in muscle when this transporter protein not available or diminished
Carnitine deficiency
what is carnitine’s function
transports long chain fatty acids across the mitochondrial membrane
Maternal, Non-mendelian
inheritance
mitochondrial myopathies
External ophtalmoplegia (paralysis of the extraoccular muscles) is a frequent clinical presentation
mitochondrial myopathies
