Peds Myopathies Flashcards
What does a failed screen in a child mean and why do we perform developmental screens?
Failed screen indicates a work up
Sooner we identify a problem, sooner we intervene, the better the outcome
What are the 4 domains of development?
Gross motor
Fine motor
Language
Cognitive/social/emotional/behavior
When do we say a child has a delay with the DDST2?
What is a fail?
What is a caution?
A delay is indicated when a child fails or refuses an item that falls completely to the left of the age line
a fail is an item that 90% of children in the sample passed at an earlier stage
A caution is when the line falls between 75 and 90% and child fails or refuses
When interpreting the DDST, what is considered a normal test result and what is suspect?
Normal: no delays and a maximum of 1 caution
Suspect: two or more cautions and/or one or more delays. Rescreen in 1-2 weeks
What gross motor milestones should be met at the following ages? 1 at 6 months? 3 at 9 months? 1 at a year? 2 at 2 years? 1 at 3 years? 2 at 4 years 1 at 6 years?
Sits momentarily Pulls up, cruises, sits without support Stands momentarily Walks up stairs, kicks ball forward Tricycle Balance on one foot, hop on one foot Skips
What is the function of dystrophin?
Connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane
What is the inheritance pattern for DMD and what type of mutation is it?
What is the most common form?
What is a high yield associated condition?
X linked recessive, frameshift mutation that causes a deletion of dystrophin
Childhood
Cardiomyopathy
5 areas of body normally affected by DMD?
Neck, Chest, proximal arms, proximal legs, calf’s
8 major clinical signs of DMD?
Calf and thigh muscles have hypertrophy first and then are replaced by fat and CT Toe walking around 6 Limited hip flexion No more walking around 10 Compromised respiratory status Cardiomyopathy Gastric hypomotility Impaired intellectual ability
What is the Gowers sign?
How DMD kids get up off floor to be able to stand
Inheritance of Becker, mutation and difference from DMD?
X linked recessive
In frame mutation
Mild form
Clinical presentation of congenital muscular dystrophies? 4 things?
Present at birth or shortly after
Hypotonia
Severe muscle weakness, proximal to distal
Joint contractures
What is the cause of mitochondrial disorders and what 3 areas of the body are most commonly affected?
Mitochondrial or nuclear DNA mutations
Heart, brain, skeletal muscle
Inheritance and mutation of glycogen storage disorder type 2 or POMPE?
5 common presenting signs?
AR, mutation in a-glucosidase Generalized weakness and hypotonia Hypertrophic cardiomyopathy Respiratory failure Feeding problems Hearing loss
What is the mutation in myotonia congenita?
Mutations of the chloride channel CLCN1 gene
Explain what periodic paralysis is and the two types?
Repeated episodes of flaccid paralysis of the 4 limbs
Hypokalemic, associated with mutations in calcium and sodium channels and after exercise
Hyperkalemic, associated with sodium channel mutations or eating potassium rich foods
Juvenile dermatomyositis is the most common what?
4 clinical features?
Idiopathic inflammatory myopathy in kids Proximal muscle weakness Purple rash on upper eyelids Grotten papules Thrombi or bleeds in periungal cap beds
Statins cause what type of muscle damage and what are 3 clinical signs?
Necrotizing and inflammatory myopathy
Weakness, pain, and tenderness
Big difference between congenital myasthenia syndrome and m gravis?
Congenital does not involve antibodies
What is more concerning of a child that not hitting developmental milestones?
Hitting milestones but then regressing
Two imaging modalities for RA and why?
X ray to detect symmetrical involvement of hands and feet
CT for bony abnormalities and erosions
