Term
| dystrophinopathies are a deficiency of dystrophin protein which does what? |
|
Definition
| anchors F-actin to plasma membrane of muscle |
|
|
Term
| What are the 2 forms of dystrophinopathies characterized by clumsy gait, calf hypertrophy, muscle weakness? |
|
Definition
1) Duchenne muscle dystrophy
2) Becker muscular dystrophy |
|
|
Term
| What is the most common adult muscular dystrophy? |
|
Definition
|
|
Term
| What are some findings with myotonic dystrophy? |
|
Definition
1) ptosis of eyelids
2) atrophy of masseter and temporal muscles
3) slowing of muscle relaxation |
|
|
Term
| What disorder has axillary lines, webbed neck, scapula prominence and foot drop (anterior tibial muscle involvement) |
|
Definition
| facioscapulohumeral muscular dystrophy |
|
|
Term
| What is used to diagnosis malignant hyperthermia? |
|
Definition
| caffeine-halothane contraction test on muscle biopsy |
|
|
Term
| What is the most common neuromuscular transmission disorder? |
|
Definition
|
|
Term
| What is the antigen against with myasthenia gravis? |
|
Definition
| AChR (acetylcholine receptors) |
|
|
Term
| Symptoms are often better at what time of day with myasthenia gravis? |
|
Definition
|
|
Term
| What is the tensilon test? |
|
Definition
| injected into muscle, improvement-MG |
|
|
Term
| What is the first line treatment in Myasthenia gravis? |
|
Definition
|
|
Term
| Antibodies are against what with Lambert-Eaton myasthenic syndrome? |
|
Definition
| voltage-sensitive calcium channels |
|
|
Term
| Lambert-Eaton syndrome is often associated with what? |
|
Definition
|
|
Term
| What is found with DTRs with myasthenia gravis and Lambert-Eaton? |
|
Definition
MA-normal relflexes
LE-hyporeflexia |
|
|
Term
| Lou-Gehrig disease is caused by what? |
|
Definition
| loss of motor neurons in the ventral horn, motor cortex, and brain stem motor nuclei |
|
|
Term
| Upper motor neuron finding include what? |
|
Definition
1) clonus
2) hyperreflexia |
|
|
Term
| Lower motor neuron findings include what? |
|
Definition
1) atrophy
2) weakness
3) fasiculations |
|
|
Term
| Lower motor neuron findings include what? |
|
Definition
1) atrophy
2) weakness
3) fasiculations |
|
|
Term
| What 2 things are essential for diagnosis of Lou Gehrig's disease? |
|
Definition
1) EMG studies demonstrating active denervation in 3 extremities and paraspinal muscles
2) normal nerve conduction studies |
|
|
Term
| What do you want to observe for with rhabdomyolysis? |
|
Definition
|
|
Term
| What drug prolongs survival of Lou Gehrig disease by 4 months? |
|
Definition
|
|
Term
| Is Lou Gehrig's disease associated w/dementia? |
|
Definition
|
|
Term
| What 4 things precipitate periodic paralysis? |
|
Definition
1) Cold
2) Carbs
3) Alcohol
4) Exercise |
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