Diseases of Muscle (musculoskeletal pathology) Flashcards
What are the functional systems in muscle that could malfunction?
1) Ion fluxes
2) Neuromuscular transmission
3) Excitation - contraction coupling
4) Oxidative phosphorylation
5) mRNA transport
What are the presenting symptoms of muscle disease?
- wasting
- pain
- cramping
- fascicultions
- weakness
What is dystrophin?
dystrophin is a protein that is attached to the plasma membrane of muscle cells
What are the 3 main components of muscle disease?
1) Neurogenic (spinal cord, peripheral nerves)
2) Motor end plate
3) Primary muscle diseases
What are the potential sarcolemmal and extracellular matrix defects?
-sarcolemma is the cell membrane of a muscle fibre cell
Defects could be in:
-Basal lamina
-plasma membrane
What happens if the sarcolemmal proteins are disrupted?
leads to muscular dystrophies
What is primary merosin deficiency ?
disease of the basal lamina
What part of the cell is dystrophin (duchene muscular dystrophy) a disease of?
Plasma membrane of muscle cell
how is duchene muscular dystrophy inherited?
sex linked recessive disorder
how is Emery Dreifuss Muscular Dystrophy inherited?
X linked recessive
what is the effect of emery dreifuss muscular dystrophy?
- weakness of proximal arm and distal leg muscles
- cardiomyopathy
How is Limb-Girlde muscular dystrophy inherited?
Heterogeneous
what is nemaline myopathy?
It is a recessive disease that presents with neonatal hypotonia, respiratory insufficiency, a high arched palate and kyphoscoliosis.
What is malignant hyperthermia?
- abnormal susceptibility to certain anaesthesia
- presents as a rise in temperature and rigid contractions
how is myotonic dystrophy inherited?
dominant
