11. Clinical Approach to Pediatric Myopathies

Question 1

A developmental assessment is performed at every well child visit, it helps determine if a child is keeping up with expected developmental milestones, a failed screening is simply an indication for a more thorough evaluation, it is NOT?

Answer 1

diagnostic

Question 2

What type of motor development involves movements involving the large muscles, supporting head, rolling over, sitting up, walking and running, and is the MOST important domain when talking about myopathies?

Answer 2

Gross Motor

Question 3

What is the name of the test administered at age 18/24 months and focuses on areas where DDSTII is known to be weak, the personal social domain and tha language domain, children with austism struggle with communication and interaction with their environment, thus the focus on these two developmental domains?

Answer 3

MCHATR Modified Checklist for Austism in Toddlers- Revised

Question 4

Match the gross motor skills with the age a child should develop them...
Sits momentarily without support
Pulls up, cruises, sits well without support
stands momentarily
walks up stairs two feet on each stair, kicks ball forward
Pedal tricycle
Balance on one foot, hop on one foot
Skips
6mo
9mo
2yr
1yr
3yr
6yr
4yr

Answer 4

6mo: Sits momentarily without support
9mo: Pulls up, cruises, sits well without support
1yr: stands momentarily
2yr: walks up stairs two feet on each stair, kicks ball forward
3yr: Pedal tricycle
4yr: Balance on one foot, hop on one foot
6yr: Skips

Question 5

Neuropathy due to LMN disease, see distal distributation, fasciculations present, reflexes diminished, sensory signs/sx presents. What is when nerve function is intact, and is associated with proximal distribution, absent fasciculations, REFLEXES PRESERVED, sensory signs/sx absent?

Answer 5

Myopathies

UMN deficit causes hyperreflexia

Question 6

What is a muscle disease unrelated to any disorder of innervation or neuromuscular junction, present with weakness in the proximal muscles, DTRs are normal, but may decrease as weakness progresses?

Answer 6

Myopathy

Question 7

What is the MC severe childhood form of muscular dystrophy, Xlinked recessive, due to FRAMESHIFT mutation in dystrophin gene, making it absent, may develop cardiomyopathy, CK very high, see proximal weakness, steroids/supportive care used for tx?

Answer 7

Duchenne Muscular Dystrophy

+Gower maneuver to get off group is very suggestive - sign of severe proximal weakness

Question 8

Clinical aspects of Duchenne Muscular Dystrophy include floppy neck, delayed walking, running and cant keep up, broad based, waddling, lordotic gait, proximal muscle weakness which is usually first noted around what age, as developmental milestones in the gross motor domain start to be missed?

Answer 8

1.5-2 years

Toe walking at 4-6
Cardiomyopathy at 15yrs

Question 9

What Muscular Dystrophy is xlinked recessive caused by mutation in dystrophin- inframe mutation where reading frame is maintained, proximal weakness that presents after 5yrs, much older than duchenne?

Answer 9

Becker Muscular Dystrophy

Question 10

NOTE: X linked recessive ONLY affects male members on the maternal sides, X linked dominant ONLY affects females on the paternal sides

Question 11

What Muscular Dystrophy is present at birth, hypotonia, severe m weakness-proximal, AR, involves structural proteins of the ECM, affecting males and females equally?

Answer 11

Congenital Muscular Dystrophies

Question 12

What is an AR glycogen storage disorder type 2 disease, due to acid alpha-glucosidase* gene mutations, resulting in dec enzyme activity, allowing build up of glycogen in lysosomes of cells especially in MUSCLE?

Answer 12

Pompe Disease

Question 13

Pompe Disease presents with weakness and hypotonia, resp failure, feeding difficulty, hearing loss, 1/40000 births, may treat with enzymes, what is seen in the heart*?

Answer 13

Hypertrophic Cardiomyopathy

Question 14

What is difficulty relaxing hand grip, rare, associated with mutation in chloride channel CLCN1 gene***, AD or AR, muscle stiffness- fainting goat syndrome?

Answer 14

Myotonia Congenita

Question 15

What is the MC acquired idiopathic myopathy in children, systemic, autoimmune-cellular and humoral immunity involved, onset at 7 years, see symmetrical m weakness, heliotrope rash with periorbital edema, gottrons papules (erythematous, papulosquamous eruption over the dorsal surfaces of the knuckles)?

Answer 15

Juvenile Dermatomyositis

Question 16

Elevated serum creatine kinase activity is an indicator of muscle damage, some myopathies present with extremely elevated CK. What lab serum is helpful presents ONLY in liver and is used to tell if elevated CK is a liver or muscle issue?

Answer 16

Gamma-glutamyl transferase GGT

So if CK elevated, to tell if its liver or muscle, order GGT, if elevated then liver issue