Type of dementia linked to the ALS population.

Gene responsible for familial ALS

Nerve conduction abnormality seen on the initial phase of an AIDP patient

classic clinical finding of inclusion body myositis

MOA of pyridostigmine

55 M with slow progressive lower motor neuron signs with decreased libido and gynecomastia

4 year old boy brought to clinic for difficulty walking with abnormally large calf.

Acute signs of neuronal injury on EMG/NCV

Rimmed vacuoles seen on muscle biopsy
(image 2)

Medication for ALS that is a glutamate release inhibitor

65 Y M with progressive weakness over months. Exam shows pure motor weakness, no sensory involvement, decreased reflexes, fasciculations. EMG shows conduction block of motor neurons outside of compression sites

patients with CMT1A (Charcot Marie tooth type 1A), what is the genotype?

first abnormal emg/ncv finding on a carpal tunnel patient

Perifascular atrophy on muscle biopsy
(atrophic fibers in the borders of the fascicles)
Image 3

medication effective for treatment of myotonic dystrophy

50 Y Female with only UMN signs that are stable>5 years

Patient with myotonic dystrophy type 1, what is the genotype?

Classically seen on EMG on a patient with chronic neuronal injury

25 Y man has frontal balding, atrophy of temporals and master muscles, b/l ptosis, UE weakness. Percussion of thenar eminence causes prolonged contraction and slow relaxation

Oral treatment option for SMA

Patient with episodes of vomiting, abdominal pain and proximal UE weakness

22 year old female with weakness and muscle cramps after exercise. improves with potassium, what is the genotype?

49 Y Male with chronic hx of myalgia's referred to EMG for progressive muscle weakness
Image 1

14 Y boy w/ progressive weakness of the shoulders/upper arms, prominent contractures at the elbows, no pseduohypertrophy of the calves , EKG showed complete AV block

FDA approved medications for exon skipping therapy: which exon are the target?