Term
| What is the main characteristics of all NMJ disorders |
|
Definition
| Fluctuating weakness w/o pain or paresthesias |
|
|
Term
| What is the clinical presentation of Myasthenia Gravis and what age group does it affect? |
|
Definition
Older men and younger women
Bulbar Weakness
Fatigue with repitition |
|
|
Term
| What is the important screen done in MG patients |
|
Definition
|
|
Term
|
Definition
Repetitive Stimulation test
Ach Receptor Antibodies(MuSK antibodies if Ach receptor is (-))
Edrophonium test(only if objectible symptoms)
Single fiber EMG(more sensitive not specific) |
|
|
Term
| What is the treatment of MG |
|
Definition
Pyridostigmine
Corticosteroids IVIG, Plasmaphoresis, Chemtherapeudics |
|
|
Term
| What is Lambert-Eaton Syndrome and how does it present? |
|
Definition
Ig to the voltage gated Calcium channels caused by a paraneoplastic syndrome(small-cell cancer)
Presentation:
Proximal Weakness
Autonomic disfunction |
|
|
Term
| How do you diagnose and treat Lambert-Eaton syndrome |
|
Definition
Dx: Rapid Repetitive Stimulation
Tx: Treat the cancer |
|
|
Term
| What studies are used to diagnose myopathies |
|
Definition
|
|
Term
| What are the signs, diagnosis, and treatment of Duchenne's muscular dystrophy |
|
Definition
Signs:
Calf Pseudohypertrophy
Gower's Sign
Cardiomyopathies/Arrythmias
Diagnosis: Genetic(x-linked recessive)
Treatment: Steroids(allows 2-3 more years of walking) |
|
|
Term
| What is the lifespan in duchenne's and Becker's Muscular dystrophy? |
|
Definition
Duchenne's:Teen's to Twenties
Becker's: Twenties to Thiries |
|
|
Term
| What are the signs of Monotonic Dystrophy |
|
Definition
Myotonia
Long Faces, temporal wasting, frontal balding
Mental Retardation
Conduction defect
Distal weakness except in DM2 |
|
|
Term
| What are the causes of the two myotonic dystrophies |
|
Definition
DM1: trinucleotide repeat
DM2: Tetranuleotide repeat |
|
|
Term
| What is the cause and presentation of Limb-Gidle Muscular Dystrophy/ |
|
Definition
Cause: dysfunction of Dystrophin associated proteins
Presentation: Slow progression proximal weakness |
|
|
Term
| What is the most common cause of recurrent myoglobuliuria |
|
Definition
|
|
Term
| How are mitochondrial diseases that affect muscle inherited and what would you see on muscle biopsy? |
|
Definition
Maternally inherited
Ragged Red Fibers |
|
|
Term
| What is the cause of malignant hyperthermia and how is it treated |
|
Definition
Mutation in the ryanodine receptor(RYR1 gene) causing pronounced Ca release from the SR when exposed to certain anesthetics
Tx: Dantrolene
|
|
|
Term
| What are the signs, diagnosis, and treatment of polymositis |
|
Definition
Proximal Weakness
Dyspahgia-Esophogeal Enlargement
Diffuse Interstitial Lung Disease
Cardiac Arrhythmias
Dx: Biopsy-Endomysial Inflammation
Tx: IgIV, Steroids |
|
|
Term
| What should you screen for in polymyositis? |
|
Definition
Anti-Jo1 antibody
Seen in patients who develop Interstial Pulmonary Fibrosis |
|
|
Term
| What are the skin lesions assosiated with Dermatomyositis |
|
Definition
Grotten's Papules
Heliotrope
Macropapular Rashes |
|
|
Term
| Most common inflammatory myopathy of patients over 50? |
|
Definition
|
|
Term
| What is the presentation of Inclusion Body myositis |
|
Definition
Older patients
Chronically developing muscle weakness Dysphagia
Distal arm and Proximal leg weakness |
|
|
