NEUROPATH LAST QUIZ Flashcards
What is the most commonly inherited neurological disorder?
CHARCOT-MARIE-TOOTH DISEASE aka peroneal muscular atrophy
What does it mean that CMT is genetically heterogeneous?
there are multiple different ways that it can result (genetically)
- autosomal dominant
- autosomal recessive
- x chromosome linked pattern will see men affected
Differentiate CMT-1 vs. CMT-2
CMT-1: peripheral demyelination d/t abnormal myelin production
CMT-2: axonal death and degeneration WITHOUT a primary myelin defect
CMT is/is not progressive and does/does not have both sensory and motor symptoms
IS progressive (slowly)
DOES have both
Describe typical feet in someone with CMT:
pes cavus with hammer toes (curled)
foot drop
champagne bottle legs
Differentiate the signs and symptoms between CMT1 and CMT2
CMT1: proprioception lost in feet/ankles, diminished cutaneous sensation (pain and temperature)
CMT2: impaired proprioception. minimal sensory loss; tingling and burning in feet/legs.
How is CMT diagnosed?
nerve biopsy and nerve conduction studies
How is CMT treated?
symptomatic tx to try to minimize deformity and improve function
massage, ROM to prevent contractures
anti-inflammatories, analgesics, orthotic devices
B3 (niacin/nicotinic acid) deficiency can have what consequences?
delirium, dermatitis, diarrhea
Give an elevator pitch for Tay-Sachs disease.
a rare genetic disorder that must be inherited from both parents, involving absence of the enzyme HEXOSAMINIDASE, which helps break down fatty substances.
if these substances build up to toxic levels in the child’s brain, it will affect the function of nerve cells
Who is most likely to end up with Tay-Sachs disease?
Eastern and Central European Jews
French Canadian communities in Quebec
Old Order Amish in Pennsylvania
Cajun in Louisiana
When do infants with Tay-Sachs start showing symptoms?
~6 months
What are the most common S&S of Tay-Sachs?
loss of motor skills exaggerated reactions to loud noises seizures vision & hearing loss cherry-red spots in the eyes paresis, muscle weakness
How is Tay-Sach’s diagnosed?
- eye exam for cherry red-spot
- blood levels of hexosaminidase
- heredity (family history)
- pediatric neurologist exam
Symptomatic treatment for Tay-Sachs disease includes…
medication
respiratory care (chest physio to clear lung mucus)
feeding tubes
gastrostomy (assistive feeding tube)
physical and massage therapy
hopefully, in the future: gene therapy or enzyme replacement therapy
Niemann-Pick Disease is a rare, inherited disease that affects…
the body’s ability to metabolize fat (cholesterol, lipids) within cells
Niemann-Pick Disease is caused by a deficiency in the activity of what enzyme? What happens to the affected lipid?
sphingomyelinase
sphingomyelin accumulates in organs
The 3 types of Niemann-Pick disease are differentiated based on…
when the symptoms appear
Type A - first few months of life
B - may not show for years
C - may not experience symptoms till adulthood
Is there a cure for Niemann-Pick disease?
no
Which type of Niemann-Pick disease is the least common/most rare?
Type C
Which type of Niemann-Pick disease does not have brain or nervous system involvement??
Type B
Tarsal tunnel syndrome has also been called…
posterior tibial neuralgia
Freidreich ataxia is a rare, inherited disease… people with this disease will most commonly die from…
heart disease
There is/is no cure or effective treatment for FA
there is NO
