Nictonic Acetylcholine Receptor
What receptors are found at the neuromuscular junction?
Inherited and Acquired
What are the two groups of myopathies?
Genetic mutations in RyR1 coding gene
What causes dysfunction of the ryanodine receptor 1 resulting in myopathies?
an autoimmune disease in which antibodies bind to the acetylcholine receptors in the postsynaptic membrane at the neuromuscular junction (NMJ)
What is Myasthenia gravis?
Epimysium, Perimysium, Endomysium
What are the layers of connective tissue surrounding skeletal muscle?
A disease of muscles
What is myopathy?
Physical therapy, specialized braces, and surgical intervention
What are treatments (not cures) for CCD?
Condition caused by weakness of eye muscles resulting in double vision
What is diplopia?
Undergoes a conformational change upon detection of an action potential
What is the dihydropyridine receptor?
Burning and tickling feeling in the extremities (especially arms, legs, hands, and feet)
What is Paresthesias?
Weakness in proximal muscles
A symptom of Central Core Disease (CCD) is what?
drooping of the eyelids
What is ptosis?
The electrical stimulus that leads to muscle contraction
What is an action potential?
Toxic Myopathies, Inflammatory Myopathies, and Myopathies associated with Systemic Conditions
What are the categories of acquired myopathy?
Ryanodine Receptor 2 (RyR2)
What is the ryanodine receptor isoform present on cardiac muscle?
Transmembrane protein needed to stimulate the signalling pathway resulting in clustering of Acetylcholine receptors on the postsynaptic membrane
What is muscle-specific kinase protein (MuSK)?
Periosteum
What is the connective tissue wrapped around the bone?
A general symptom that is seen in inherited myopathies.
What is dark-coloured urine?
Scoliosis
What is an abnormal curvature of the spine?
Condition in which loss of the presynaptic voltage-gated calcium channels results in reduced release of the acetylcholine transmitter
What is Lambert-Eaton myasthenic syndrome?