HD/ALS/GBS Flashcards
(true/false) According to the NIH, Huntington’s disease is classified as a common disease
FALSE (rare)
What age range does HD commonly occur?
30-50 y/o; white
Early onset HD is if the patient is diagnosed before the age of ___ y/o.
20 y/o (also called juvenile onset)
late onset HD is if the patient is diagnosed after the age of ___ y/o.
59 y/o
When does death occur after onset of HD symptoms?
15-25 years
What chromosome is the defect causing HD on?
short arm of chromosome 4
HD is a progressive degenerative disease of the ____.
basal ganglia
HD is autosomal (dominant/recessive)
autosomal dominant
What does the huntington gene contain?
- Contains expanded numbers of DNA cytosine, adenine, and guanine (CAG)
–> (CAG) triplet repeats compared to the normal gene - Mutant huntingtin protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting their normal functions
Normal gene produces a protein called huntingtin that is important for ______ function
nerve cell
What determines if a person will develop huntington’s disease and how severe it can be?
The amount of CAG triplet repeats
Individuals with up to ____ CAG repeats are normal
26
Individuals with ____ CAG repeats may not produce HD, but the number of repeats may increase with their children.
27-35
Individuals with 40 or more repeats will definitely have HD, while individuals with > ______ repeats will develop symptoms in childhood.
> 60 repeats
definition: a pathological condition marked by a proliferation of astrocytes into tissues of the central nervous system in which neurons have died due to lack of oxygen or glucose, as during episodes of hypoxia or hypoglycemia. Also called astrogliosis.
astrocytosis
What is the pathology of HD?
Severe loss of neurons in the caudate and putamen with subsequent astrocytosis.
Where does HD cause neuronal degeneration?
temporal and frontal lobes
globus pallidus
thalamus
subthalamic nucleus
substantia nigra
cerebellum
What structures in the neuron are vulnerable to HD?
Medium-sized, ″spiny″ projection neurons of the STRIATUM are vulnerable to HD
What stage of HD is described?
characterized by loss of projection neurons of the indirect (D2) pathway, causing disinhibition of the thalamus– excites the cortex, producing hyperkinetic or choreic movements
early HD
What stage of HD is described?
loss of striatal projection neurons of the direct (D1) pathway, as well as cortical neurons – results in hypokinesis
late Stage HD
What are the signs and symptoms of HD?
- bradykinesia and akinesia
- difficulty with saccadic eye movements
- coordination dysfunction (RAMS)
- Impaired force modulation control (LOB when reaching)
- Impaired eccentric control (inc. falls when sitting)
- inability to maintain voluntary muscle contractions
- dropping objects
- Gait similar to PD
- ideomotor apraxia
- abnormal speech, swallowing and breathing
- increased energy expenditure
- emotion changes (dementia, depression)
inability to communicate via speech and writing
definition: inability to carry out, on command, learned motor acts despite adequate motor and sensory abilities
ideomotor apraxia
Ideomotor apraxia is associated with ___ degeneration.
corticobasal degeneration
Each child who has a parent with HD has a __% chance of inheriting the gene
50%
What is usually enough to confirm a Dx of HD?
- Positive family history of HD
- the presence of typical motor signs and symptoms of HD
What is the mean number of years for duration of HD?
19 years
What influences the duration of HD?
the age of symptom onset (juvenile and late onset patients have the shortest duration)
What do most people die from with HD?
- falls
- malnourishment
- infection
- pneumonia
With interventions for HD, the amount of ____ and ____ become more important as disease progresses.
rigidity and ROM
definition: inability to sustain certain simple voluntary acts such as keeping eyes closed, protruding the tongue etc.
motor impersistence
What does the Unified Huntington’s Disease Rating Scale (UHDRS) assess?
Used for monitoring disease progression and effects of therapy
What are the interventions that should be used for early-stage HD?
- Strengthening exercises for muscles involved in postural control
- General strengthening exercises
- Advanced balance activities
- Aerobic activity
What are the interventions that should be used for mid-stage HD?
- AD training
- balance
- endurance
- safety
- continued MSK assessment (ROM, strength, dystonia)
- pain
What are the interventions that should be used for late-stage HD?
- frequent position changes
- frequent meals and snacks
- respiration
- caregiver instructions
- optimal seating
- address potential weight loss
Where do people normally reside if they have late-stage HD?
LTC or home care
What neurons are affected by LMN diseases?
Spinal motor neurons/anterior horn cells.
What neurons are affected by UMN diseases?
corticospinal neurons
What motor neuron disease affects both the upper and lower motor neurons?
Amyotrophic lateral sclerosis (ALS)
–> Massive loss of the anterior horn cells of the SC and motor cranial nerve nuclei
What motor neuron disease affects the upper motor neurons?
Primary lateral sclerosis
What motor neuron disease affects the lower motor neurons in the spinal cord?
Progressive muscular atrophy
What does progressive bulbar palsy commonly affect? What does it cause?
a. lowest motor neurons of the brain stem are most affected
b. causing slurred speech and difficulty chewing and swallowing
What motor neuron disease is often confused with PD?
progressive supranuclear palsy
What are the s/s of progressive supranuclear palsy?
- vertical gaze palsy
- bulbar symptoms
- bradykinesia/rigidity
What is another name for ALS?
lou Gehrig’s disease
(true/false) ALS is not a degenerative, terminal disease
FALSE (it is)
What does ALS result in?
- muscle atrophy and weakness
- gliosis and degeneration of corticospinal and corticobulbar tracts
definition: a proliferation of astrocytes in damaged areas of the central nervous system (CNS).
gliosis
What is the most common form of motor neuron diseases?
ALS
What age range are patients most likely going to have onset of ALS?
50-70 y/o (primarily men)
Mean age: 57 y/o
What are common cases of ALS?
Sporadic ALS
–> 5-10% are classified as a familial form of ALS
(true/false) Clincal presentation of sporadic and familial form of ALS are identical
true
What is the etiology of ALS?
unknown
–> theories include toxins, abnormal glutamate transport in the CNS, autoimmune processes, viral, or deficiency in nerve growth factor
What are the s/s of ALS?
- absence of sensory
- cognitive dysfunction (frontotemporal dementia)
- fatigue
- fasiculations of the tongue
- weakness and atrophy
- cramps
- Bulbar symptoms (dysphasia and dysarthria)
What are the earliest symptoms of ALS?
- fasciculations of the tongue
- cramps
- fatigue
- weakness and atrophy
Weakness associated with ALS is not often reported until when?
Until the patient has functional weakness
Muscle (Flexors/extenors) tend to be weaker than the other when a person has ALS.
flexors
ALS typically has (distal/proximal) involvement first when symptoms develop
distal
What are bulbar symptoms?
dysphagia and dysarthria
What 3 items does the Dx of ALS require?
- Signs of LMN degeneration by electrophysiological, neuropathic, and/or clinical examination
- Signs of UMN degeneration by clinical examination
- Progressive spread of signs within a region(s) with the ABSENCE of: electrophysicological evidence of other pathologies AND neuroimaging of another disease process that may explain the s/s
Almost all cases of ALS result in what?
Death due to respiratory failure
–> more patients are electing to prolong their like with the use of mechanical ventilation
What ALS symptoms are commonly associated with a more rapid progression of their condition?
Bulbar and respiratory weakness
What is the survival time after onset of ALS?
4.08 years after onset
–> some may live up to 15-20 years
(true/false) There is a cure for ALS
FALSE
Why are 90% of patients diagnosed with ALS not provided referrals or f/u appointments by their neurologists?
They were told that their death was eminent within 1-3 years despite the median lifespan being 4 years
What is an outcome measure used for evaluating the functional status of patients with ALS?
Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS)
(true/false) The Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) can be used to monitor functional change in an ALS patient over a period of time
true
(true/false) Possible negative/positive effects of resistive exercises are unclear in patients with ALS
true
What is Guillian Barré syndrome?
Acute inflammatory demyelinating polyneuropathy
GBS is a(n) ___ disorder.
autoimmune
What does the common form of GBS affect? What does it cause?
nerve roots and peripheral nerves causing motor neuropathy and flaccid paralysis
Who is more commonly affected by GBS?
males
More than 2/3 of patients with GBS had symptoms of an ________ 2 weeks before the onset of symptoms
infectious disease
What are criteria required for diagnosis of GBS?
- progressive symmetrical weakness of at least one limb
- areflexia or hyporeflexia
What are clinical findings that are supportive of diagnosis of GBS?
- < 4 weeks progression of symptoms
- sensory deficits
- CN involvement
- impaired autonomic function
- increased CSF protein
- CSF cell count is <10
- demyelination
- recovery of s/s
What is GBS commonly known for developing?
Known for rapidly developing symmetrical weakness
What are s/s of GBS?
- mild sensory involvement
- autonomic dysfunction (tachycardia, arrythmias, vasomotor symptoms)
- absence of fever at onset
- recovery is 2-4 weeks after plateu
- pain
What is more common in GBS patients that require ventilator support?
dysautonomia
When do most patients with GBS recover after the process has stopped?
2-4 weeks
What are factors associated with a less favorable prognosis of GBS?
- Older age (>60)
- Severe disease as indicated by GBS disability score or MRC score
- Rapid disease progression (less than 7 days) prior to admission
- Preceding diarrheal illness (C jejuni infection)
- Average distal motor response amplitude reduction to <20%
- Need for ventilatory support
What treatment of GBS is found to be most beneficial?
IV immunogloin (IVIg)
What outcome measure is developed to predict GBS outcome at 6 months?
Erasmus GBS outcome scale (EGOS)
–> involves age, preceding diarrhea, GBS disability score @ 2 weeks
