This is definitely about muscles
This percentage of adult patients required intubation when infected with botulism (to the nearest 10%)
46% -- 87% of these patients were within 48 hours of hospital presentations
This is the gene that when has a toxic gain of function, is associated with Facioscapular humeral dystrophy
DUX4
What is the most common initial treatment for inflammatory myositis
Steroids (usually prednisone 0.75mg/kg - 1mg/kg daily) - consider IV for severe symptoms (Dyspnea, dysphagia, sever functional limitations due to weakness)
What is the inheritance pattern of Duchenne Muscular Dystrophy
X-linked recessive -- of note, if diagnosing a patient, mother should be screening for cardiac disease as 8% will develop cardiomyopathy even if just a carrier
Lambert Eaton Myasthenic Syndromes is most often associated with what malignancy?
Small cell lung cancer
This muscle disorder is one of the most common muscular dystrophies that presents with progressive, asymmetric facial weakness, shoulder weakness, and proximal arm and leg weakness
Facioscapulohumeral muscular dystrophy (FSHD)
What muscle condition is highly associated with TIF-1 gamma, and what it is often associated with
Dermatomyositis - malignancy (most found within 2-3 years of myositis onset)
this condition is often associated with CTG trinucleotide repeats and clinically can present with delayed muscle relaxation, central sleep apnea, diffuse leukoariosis, and can have significant cardiac arrhythmias.
Myotonic dystrophy - multiorgan involvement is more variable/less common in type 2 than in type 1
This syndrome has three sub-types, Presynaptic, synaptic, post-synaptic, and is characterized by fatigable axial/proximal muscle weakness and often presents in birth or infancy
congenital myasthenia -- LOADS of gene to be aware of based on where the dysfunction is and treatment depends on those gene mutations (at least 35 genes known as of now)
This muscle disorder is classically associated with weakness of deep finger flexors and knee extensors asymmetrically in patients who are usually > 50 years old
inclusion body myositis
this disorder is commonly associated with Anti-Jo1 antibody
Anti-synthetase syndrome/Overlap myositis
This condition is associated with SCA4 mutation and clinically patients have weakness that lasts for around minutes to an hour that is highly associated with prolonged rest, eating fruit, cold, and rest after exercise
hyperkalemic periodic paralysis
At which rate of repetitive nerve stimulation will there be incremental responses to NCS in botulism?
30-50 Hz (high frequency facilitates release of pre-synaptic molecules -- magnesium in particular)
these are the two most common antibodies for immune-mediated necrotizing myopathy
Anti-HMGCR and Anti-SRP
You diagnose a patient with overlap myositis/anti-synthetase syndrome, what other testing should you patient get separate from the nervous system and why?
Pulmonary testing -- assessing for interstitial lung disease
This condition can be associated with mutation in CACN1 variant (although 20-30% do not have mutations) that is associated with transient weakness that lasts hours - days that is precipitated by eating high carb meals, emotional/physical stress, and vomiting
Hypokalemic periodic paralysis
This is the mechanism of action of the most commonly used medication to treat LEMS
presynaptic potassium channel inhibition, increasing Ach release
prominent involvement of distal vastus lateralis and medialis, and medial gastrocnemius and sparing of rectus femorus and posterior thigh muscles on MRI is characteristic of what muscle disorder on MRI
Inclusion body myositis
What commonly used enzyme inhibitor medication should not be used in overlap myositis patients with interstitial lung disease that is commonly used in other inflammatory myositis patients
Methotrexate -- can cause interstitial lung disease/worsen pre-existing
These are the CK levels that are diagnostic for rhabdomyolysis in the following scenarios:
1. exertional
2. non-exertional
3. patient with underlying neuromuscular disorder
1. > 10,000
2. > 5,000
3. 5-10x baseline