Clinical Approach to Myopathies (Newman) Flashcards
When caring for a child, is a developmental screen, or a screening of any type, diagnostic?
A failed or concerning result of a screening test is an indication for?
1) No
2) More thorough evaluation
What movements are the most important domain when talking about myopathies?
Gross motor
Gross motor which is one of the domains of pediatric development involves?
Examples?
1) Movements involving the large muscles
2) Supporting head, rolling over, sitting up, walking
Fine motor which is one of the domains of pediatric development involves?
Movements using the hands and smaller muscles
What makes up the language domain of pediatric development?
1) Receptive (understanding what is being said to them)
2) Expressive (talking)
3) Both verbal and nonverbal communication
What makes up the Cognitive/Social-Emotional and Behavioral domain of pediatric development?
1) Attachment to others
2) Self-regulation
3) Interaction with others
What is the importance of early intervention in children with developmental delays?
The earlier a developmental deficit is identified and the earlier an intervention is made, the better the outcome
While not meeting developmental milestones is concerning, what is viewed as more concerning?
Losing developmental skills that had already been achieved
1) When can a child hold their chin up when in the prone position?
2) Roll over from front to back?
3) Sit briefly without support?
4) Pull to stand?
5) Stand without support?
6) Run with coordination?
7) Pedal tricycle?
8) Climb stairs with alternating feet?
9) Balance on one foot?
1) 2 months
2) 4 months
3) 6 months
4) 9 months
5) 12 months
6) 2 years
7) 3 years
8) 3 years
9) 4 years
What does the DDST-II (Denver Developmental Screening Test) assess?
The four major domains of development
When is the M-CHAT-R (Modified Checklist for Autism in Toddlers-Revised) administered?
18- and 24-months-of-age
The M-CHAT-R focuses on the areas where the DDST-II is known to be weak which are?
1) Personal-social domain
2) Language domain
Children with autism or another diagnosis under the umbrella of Pervasive Developmental Delay (PDD) struggle with?
Communication and interaction with their environment
What is weakness?
What is hypotonia?
1) Decreased ability to voluntarily and actively move muscles against resistance
2) Decreased muscle tone
Weakness and hypotonia often occur together, but hypotonia can exist in the absence of weakness and if this occurs what is most likely involved?
Neuro issue
What is a myopathy?
A muscular disease unrelated to any disorder of innervation or neuromuscular junction
Most myopathies present with?
Weakness in the proximal muscles
In regard to myopathies, what starts normal but may decrease as weakness progresses?
DTR’s
What is the most common severe childhood form of muscular dystrophy?
Duchenne Muscular Dystrophy (DMD)
What is the inheritance pattern of DMD?
What does the inheritance pattern mean?
1) X linked recessive
2) Sons have a 50% chance of getting it while daughters have a 50% change of being carriers
What is the mutation seen with DMD?
What does this cause?
1) Frameshift mutation of dystrophin
2) Absent of muscle dystrophin
What may girls that are carriers of DMD develop?
Cardiomyopathy
How do DMD patients present?
1) Rarely have anti-gravity neck flexor strength
2) Delayed walking, difficulty running
3) Broad-based, waddling, lordotic gait
4) Gowers maneuver (due to proximal muscle weakness)
When is DMD usually first noted?
Around 1.5-2 years old because developmental milestones in the gross motor domain start to be missed
What levels are usually extremely elevated with DMD?
What are usually used in treatment?
1) Creatine Kinase
2) Steroids
What muscular dystrophy is similar to DMD but is less severe on clinical presentation?
Becker muscular dystrophy
How does BMD differ from DMD in terms of mutation?
It is an in-frame mutation in the dystrophin gene resulting in production of abnormal dystrophin instead of it being absent
When does the severe muscle weakness present with congenital muscular dystrophies?
What is the inheritance pattern of CMD?
The genetic defects involve structural proteins of?
Which sex does it affect more?
1) At birth or shortly after
2) Autosomal recessive
3) The extracellular matrix
4) Both
What is the inheritance pattern of Glycogen Storage Disorder type 2 (Pompe disease)?
It is due to what gene mutation?
It leads to a build-up of glycogen where in the cell?
1) AR
2) Alpha-glucosidase
3) Lysosome
What is the clinical presentation of Pompe disease?
1) Generalized weakness and hypotonia early in life
2) Cardiomyopathy
3) Respiratory issues
Myotonia Congenita is due to a mutation of?
Chloride channel CLCN 1
What is the most common idiopathic inflammatory myopathy in children?
Juvenile dermatomyositis
What is the clinical presentation of Juvenile dermatomyositis?
1) Generalized muscle weakness
2) Heliotrope rash with periorbital edema
3) Raised erythematous papules over the extensor joint surfaces (Gottron’s papules)
4) Thrombi or hemorrhage in peri-ungual capillary beds
Elevated activity of what is usually an indicator of muscle damage?
Serum creatine kinase
What levels can help determine if the liver is involved?
GGT (gamma-glutamyl transferase)
If GGT is elevated what is involved?
If it is normal?
1) Liver
2) Muscle
