Dystrophinopathy
What is the largest gene in the human body (2.3 Mb in length and 79 exons).
What is the DMD gene
What type of disorder best describes myotonic dystrophy type 1 and 2
What is a repeat expansion disorder
Which ion is associated with hyperkalemic and hypokalemic periodic paralysis?
What is Potassium
Which AR motor neuron disorder is caused by variants in the SMN1 gene and is included in newborn screening programs?
What is spinal muscular atrophy
What are the 3 M's of Huntington's Disease?
What is Movement, Memory, and Mood
What inheritance pattern does DMD/BMD follow?
What is X-linked recessive
Which dystrophy typically affects the face, scapula, and humerus?
What is Facioscapulohumeral Muscular Dystrophy
Episodic severe muscle weakness that occurs after a trigger (fatigue, alcohol, illness) is known as
What is periodic paralysis
What percentage of ALS cases are sporadic compared to familial?
What is 90% sporadic (10% familial)
Which neurodegenerative disorder affects the dopamine-producing neurons in the brain? (Hint: tremor is a primary symptom)
__-frame alterations result in truncated protein (more likely to present as BMD)
What is in-frame alteration
Which type of myotonic dystrophy typically presents more severely and in childhood?
What is Myotonic Dystrophy Type 1
This channelopathy is associated with eyelid myotonia and involves variants in the SNC4A gene
What is paramyotonia congenita
Which lower motor neuron disorder is caused by CAG repeat expansion of the AR gene (>36 repeats)?
What is spinal bulbar muscular atrophy
What disease is the most common form of dementia (general lifetime risk is 10%)?
What is Alzheimer's Disease
What is deletion/duplication analysis
FSHD is caused by inappropriate expression of the ____ gene
What is the DUX4 gene
Which type of myotonia congenita is more severe (Hint: It is the AR form)?
What is Becker Myotonia Congenita
What is the most common known genetic cause of ALS (gene name)?
What is C9orf72
Cardiomyopathy before 12 months of age is associated with which glycogen storage disorder (Hint: GAA gene)?
What is Pompe Disease (Infantile)
What type of therapy are some DMD/BMD patients eligible for?
What is exon-skipping therapy
What is the most severe of the congenital muscular dystrophies?
What is Walker-Warburg Syndrome
Mutations in which gene are associated with myotonia congenita?
What is the CLCN1 gene
What is the name of the gene therapy available for newborns affected with SMA?
What is Zolgensma
Which condition is characterized by impaired coordination and shrinkage of the cerebellum (hint: branches of a tree MRI)?
What is cerebellar ataxia?