FINAL EXAM--Chronic Neuromuscular Diseases Flashcards
How would Tay Sach’s Disease be described?
What population(s) is this disease usually found in?
What is absent that causes this disease?
A RARE autosomal recessive disease
Primarily impacts isolated groups/cultures including Amish, Cajun, people of Eastern European and Jewish hertiage
There is a absent of the enzyme Hex-A that’s needed to break down a particular lipid in the brain and CNS
Is Tay Sach’s progessive or gradual? Is the neurological deterioration?
When does the onset occur?
What type of treatment is available? What is the nurse’s role in this process?
This disease is progressive that causes neurological deterioration
Most commonly early onset (infant) and death usually occurs before age 4
SUPPORTATIVE care (PT/OT, Neurology, Antiseizures meds, Palliative care
Providing the parents support while caring for their child and genetic counseling
How would Huntington’s Disease be described? Inheritance pattern?
What population(s) is this disease usually found in?
What deficiency is present that causes this disease?
Chronic progressive hereditiary disease of the nervous system. Autosomal dominant
Affects men and women 35-45yrs (but can affects earlier age)
Deficiency in Acetylcholine and GABA, there’s premature death of cells
What are hallmarks behaviors of Huntington’s Disease? HINT: 5 behaviors
How is this disease diagnosed?
What is the medical management treatment? What other mangement options is include?
Involuntary choreiform movement (known as
“Chorea Dance”)
Athetosis: twisting and writhing movements
Facial tics and grimaces
Slurred, unintelligible speech
Dementia, emotional instability
Presence of behaviors, family hx, genetic markers
Medical management includes: pharm (dopamine receptor blockers for chorea– Austedo); Speech, physical/OT, genetic counseling, psychiatric therapy
How would Amyotrophic Lateral Sclerosis (ALS) be described?
What happens with the muscles? Are both the upper and lower neurons affected?
Progressive deterioration of motor neuron in spinal cord (anterior horn), some cranial nerves, cerbral cortex
Muscle wasting and narrowing of the tissues occurs resulting from both upper and lower neurons being affected
What are behaviors associated with ALS?
How are the upper (UMN) and lower neurons (LMN) affected?
Muscle atrophy and spasticity occurs
LMN: muscle weakness and atrophy, fasciculations (twitching)
UMN:spasticity, hyper-reflexia, Babinski
Drooling, speech problems seen when lower cranial nerves are involved
Fatal when respiratory becomes involved
What is NOT impaired with ALS (even when the disease progressed)?
How is ALS diagnosis? (Medical)
What is the medical treatment?
Is the Etiology of ALS known? What population is at increased risked for this disease?
There is NO change in cognition (pts are fully aware of what’s happening around them).
EMG and muscle biospy
Rilutek and Radicava-medication used
Etiology is unknown but there are many factors. There is an increased link to NFL players and incidence of ALS (compared to rest of population)
How would Myasthenia Gravis (MG) be described?
Is MG more common in females or males? Does this change with age (occurance)?
Where does the defect occurs in the body and what occurs?
An autoimmune disease where the body doesn’t recognize Ach receptor as “self” and attack (the body/itself) essentially the body is attacking itself
More common in females (3x more) BUT if onset is before age 50 more common in males
Defect in the transmission of impulses at NM junction resulting in loss of available receptors
