Huntingtons and ALS Flashcards
ALS: Amyotrophic Lateral Sclerosis
epidemiology
life expectancy: 2-4 years (always fatal)
by 2040, ALS incidence is predicted to increase worldwide by 70%
onset between 40-70 yr
veterans have 2x rate
both genetic and environmental factors contribute***
etiology is UNKNOWN
ALS pathophysiology
progressive, degenerative disease
affects descending corticobulbar and lateral corticospinal tracts (UMN) AND anterior horn cells (LMN)
loss of motor neurons
astrogliosis in brain and brainstem
neuronal inclusions
oculomotor testing
testing CN 3, 4, 6 (jerky or incomplete ocular pursuit, slowed saccades)
5th, 7th, 9th, 10th, and 12thcranial nerve nuclei are frequently involved
ALS Medical Diagnosis
The diagnosis of ALS requires:
- Evidence of LMN degeneration by clinical, electrophysiological or neuropathological examination
- Evidence of UMN degeneration by clinical examination, and
- Progressive spread of symptoms or signs within a region or to other regions, as determined by history or examination,
Together with the absence of:
- Electrophysiological and pathological evidence of other disease that might explain the signs of LMN and/or UMN degeneration, and
- Neuroimaging evidence of other disease processes that might explain the observed clinical and electrophysiological signs
ALS presentation
progressive muscular weakness distal –> proximal
UMN: spasticity and hyperreflexia
LMN: muscle atrophy, cramping, muscle fasciculation
LMN signs
facial weakness, fascinations, tongue atrophy and fasciculations, dysphagia, flaccid dysarthria
muscle weakness, hypotrophy, absent DTRs
axial instability, bended posture, dyspnea, orthopnea
UMN signs
spasticity, tongue protrusion, spastic dysarthria
preserved DTRs in atrophic muscles, absent superficial abdominal reflexes, increased deep abdominal reflexes
system preservation
sphincter control
sensory function
extraocular muscles
intellectual abilities
skin integrity
ALS clinical symptoms - early symptoms
Muscle twitches in the arm, leg, shoulder, or tongue
Muscle cramps
Tight and stiff muscles (spasticity)
Muscle weakness affecting an arm, a leg, or the neck
Slurred and nasal speech
Difficulty chewing or swallowing
ALS clinical symptoms - progressive difficulty with
Dysphagia
Dysarthria
Dyspnea
Dysphonia
Sialorrhea (salivary control)
Unintended crying, laughing, or other emotional displays (pseudobulbar effects)
Constipation
Maintaining weight, getting enough nutrients
stages of ALS
stage 1 - early ds, asymmetrical distribution, hand cramping
stage 2 - mod weakness, some muscle wasting, mod independence w AD
stage 3 - severe weakness, increased fatigue, mild-mod functional limitations, AMBULATORY
stage 4 - severe weakness, mod assistance and AD required, WC USER
stage 5 - MAX ASSIST, loss of head control
stage 6 - bedridden, DEPENDENT ADLs and functional movement, respiratory distress
goals of stage of ALS
stage 1 - education, energy conservation, home mod, referrals, AROM/stretching, RT, aerobic activitys
stage 2 - Equipment recs, AAROM/PROM, stretching, strengthening of unaffected muscles, aerobic exercise
stage 3 - keep independent, adaptive equipment
stage 4 - AAROM, PROM, strengthening unaffected muscles, positioning, skin integrity
stage 5 - equipment and positioning
stage 6 - airway clearance, deep breathing, assisted coughing
PT management Exam
Vital signs
Respiratory function
Motor function: examine for atrophy, widespread weakness, muscle cramping, muscle twitching, spasticity, coordination
Sensory function
Reflexes: are pathologic reflexes present? (Babinski)
Functional status: monitor for fatigue, persistent weakness following activity
ALS Functional Rating Scale (ALSFRS): assess disease progression and function; 0-40 scale with lower score linked to poorer function
medical management
no effective tx to reverse damage and no cure
Meds- aimed at reducing motor neuron damage
May slow progression, prolong survival
Symptomatic relief (spasticity, pain, respiratory failure
PT treatment
Exercise program: focus on preventing further deconditioning and disuse atrophy while avoiding overwork damage, focus on functional activity as weakness progresses
mild aerobic exercise at submaximal levels
must monitor for fatigue
Energy conservation techniques
Education for increasing cough force
Maintain functional independence (AD, orthotics, DME, environmental modifications)
Family education
exercise precautions : monitory fatigue levels closely, avoid overwork injury , moderation is KEY
Huntingtons disease
autosomal chromosomal disease affecting basal ganglia (atrophy)
inherited autosomal domonal progressive neurogenerative disorder
typical onset 30-40s
genetic counseling is important
HD pathophysiology: stratal neurotransmitter imbalance
loss of specific neurons in the indirect pathway = disinhibition of motor system –> direct pathway becomes dominant, excessive activation, excessive excitation of the thalamus and causing involuntary jerky movements
opposite of PD
medical diagnosis of HD
based on a confirmed family history or positive genetic test plus the onset of motor disturbance
HD clinical symptoms
chorea
dystonia
bradykinesia
gait
dysphagia
dysarthria
rigidity
social cognition deficits
executive dysfunction
inattention
dementia
irritability
impulsivity
mood swings
OCD, anxiety
weight loss
incontinence, constipation, insomnia
clinical recommendations to guide PT for HD
aerobic exercise (grade A) alone or in combo with RT to improve fitness and motor function, and supervised gait training (grade A) to improve spatiotemporal features of gait. There is weak evidence (grade B) that exercise training improves balance but does not show a reduction in frequency of falls; inspiratory and expiratory training improves breathing function and capacities; and training of transfers, getting up from floor and providing strategies for caregiver involvement in PA in the mid stages of HD may improve performance. there is expert consensus for the use of positioning devices, seating adaptations and caregiver training in late stages of HD
there is strong evidence to support PT interventions to improve fitness, motor function, and gait
HD treatment - to slow deterioration
no treatment can stop or reverse HD
symptom management
drugs to prevent serotonin and dopamine absorption (tetrabenazine)
antipsychotic drugs may ease chorea and help to control hallucinations, delusions, and violent outbursts
drugs to treat depression and anxiety
research aimed at novel ways to modify disease onset and progression
speech, OT, PT
PT and exercise
exercise is neuroprotection
goal of PT in early stage - delay onset of mobility problems
in middle stage - maintain function and delay decline
in late stage - limit impact of complications
balanced based too weighting (BBTW) on mobility with HD
BBTW applications demonstrated immediate impact in improving balance and ambulation in two PwHD as documented by multiple OM for gait and balance. BBTW may have potential for improving PwHD postural control and fall risk
OT vest
sample question
Which of the following cluster of clinical symptoms are common for people who have Huntington’s disease?
a. Spasticity, proprioceptive loss, speech perseveration, and motor persistence
b. Non-progressive neurogeneration of the corticopontocerebellar tracts
c. Resting tremor, significant weight gain, and freezing of gait
d. Chorea, myoclonus, inattention, mood swings, and impulsivity
