This sign is demonstrated when a patient has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength.
What is Gower's sign?
100
The most common gene mutation for Dravet Syndrome
What is SCN1A?
100
This means smooth brain.
What is Lissencephaly?
100
This is how many minimum cafe au lait macules of appropriate size must fit the criteria for NF 1.
What is six?
100
This is the enzyme deficient in PKU.
What is tyrosine hydroxylase?
200
In this disease thymectomy may cure the disease.
What is pediatric ocular myasthenia?
200
A 1-year-old has the following spell: gets upset, begins to cry and turns blue. He passes out and stiffens his arms. It lasts for 10 seconds. This is called...
What is a breathholding spell?
200
These are the associated findings in Dandy Walker Syndrome.
What is cerebellar vermal hypoplasia, enlarged fourth ventricle, and cisterna magna.
200
This is the gene for Spinal Muscular Atrophy.
What is SMN gene, or survival motor neuron gene?
200
This spectrum of diseases is related to peroxisomal dysfunction.
What is Zellweger spectrum?
300
This disease is characterized by myotonia and calf hypertrophy.
What is myotonia congenita?
300
This is the first line therapy for childhood absence epilepsy.
What is Ethosuximide?
300
This is the length of cerebellar ectopia that is required for a diagnosis of Chiari 1 malformation.
What is 5 mm or 0.5 cm?
300
This gene is involved in the most common form of Charcot Marie Tooth.
What is PMP22?
300
This vitamin deficiency can cause intractable seizures in the neonatal period.
What is pyridoxine?
400
This is the screening test for muscular dystrophies and myopathies.
What is a CK?
400
This is the EEG finding in Juvenile Myoclonic Epilepsy.
What is 4-6 Hz polyspike and wave?
400
The following are three findings on MRI for Tuberous Sclerosis.
What is subependymal nodules, cortical tubers and SEGA?
400
This trinucleotide repeat is found in Huntington's Disease.
What is CAG?
400
This disease is characterized by strong smelling, sweet smelling urine and cerumen.
What is maple syrup urine disease?
500
This gene is mutated in the common autosomal dominant form of myotonic dystrophy.
What is DMPK?
500
This syndrome is associated with agenesis of the corpus callosum, infantile spasms and retinal lacunae.
What is Aicardi?
500
A 2-year-old girl comes to clinic for acquired microcephaly, decreased use of her hands and seizures. What is the most common gene to account for her symptoms?
What is MECP2?
500
This causes a Marfan's like appearance, lens ectopia, MR and seizures. It is also a risk factor for stroke.