Neurodegenerative Diseases (MS, PD, GBS, ALS) PDF

Neuromuscular Physical Therapy 135 DEGENERATIVE DISORDERS Multiple sclerosis (MS) Characteristics Autoimmune disease → chronic, progressive demyelinating of central nervous system (CNS)...

Neuromuscular Physical Therapy 135 DEGENERATIVE DISORDERS Multiple sclerosis (MS) Characteristics Autoimmune disease → chronic, progressive demyelinating of central nervous system (CNS) (upper motor neurons [UMNs]) Most commonly affects white females aged between 20 and 40 years Unknown etiology; most likely viral Under Normal Conditions ➤ Oligodendrocytes produce myelin in the CNS ➤ The myelin insulates nerves and speeds conduction to conserve energy for nerve cells (saltatory conduction) With MS ➤ Myelin is destroyed, which means that the body cannot conserve energy for nerve cells ‡ Demyelinating lesions (plaques) slow neural transmission, which causes nerves to fatigue rapidly ‡ Lesions are scattered; commonly in the pyramidal tract, dorsal columns, cere- brum, and cerebellum S/S Commonly U/L Variable symptoms due to lesions being scattered at different times and places Optic conditions ➤ Nystagmus: involuntary rhythmic side-to-side, up-and-down, or circular motion ➤ Optic neuritis: pain and temporary vision loss ‡ Commonly the first symptoms ➤ Diplopia: double vision ‡ Treatment: give an eye patch ➤ Marcus Gunn pupil (afferent pupillary defect) ‡ When a light is shined in the eye, pupil contraction is limited Table 32. Case Example of Marcus Gunn Pupil: Light Shined in the Right Eye. Case Response Meaning 1 Both eyes constrict CN II and III are both intact bilaterally (normal response) 2 Both eyes dilate I/L CN II is affected (on the right) 3 Right eye dilates; left eye constricts I/L CN III is affected (on the right) 4 Right eye constricts; left eye dilates C/L CN III is affected (on the left) Abbreviations: C/L, contralateral; CN, cranial nerve; I/L, ipsilateral. Fatigue ➤ Muscle weakness ➤ Most commonly reported symptom of MS *** ➤ Often leads to foot drop ➤ Can lead to vaulting (compensatory gait pattern) Spasticity, hyperreflexia, heat sensitivity Ataxic gait, Intention tremor, dysmetria, dysdiadochokinesia ➤ MS can commonly affect the cerebellum which leads to these cerebellar symptoms Cognitive conditions Bowel and bladder conditions ➤ Spastic bladder: overactive bladder commonly due to hypertonic muscles ➤ Flaccid bladder: failure to empty bladder because muscles do not fully contract ➤ Dyssynergic bladder: decreased coordination between contraction and relaxation ➤ Constipation: fewer than 3 bowel movements per week Book_5566_Ch06.indd 135 18-04-2024 22:17:07  136 NPTE Final Frontier – Mastering the NPTE ‡ Most common bowel complaint Paresthesia or hyperpathia (hypersensitivity) Dysphasia and/or dysarthria Neuropathic pain ➤ Trigeminal neuralgia, paroxysmal limb pain (abnormal burning or aching) ➤ Neuropathic pain is from spinothalamic tract lesions or sensory roots Pseudobulbar affect ➤ Involuntary emotional expression disorder ➤ Sudden and unpredictable episodes of crying, laughing, or other emotional displays Lhermitte sign ➤ Experience of an electric shock sensation down the spine when flexing the neck Uhthoff phenomenon ➤ Increased neurological S/S due to heat; referred to as a “pseudoexacerbation” or “pseudoattack” Precipitating or exacerbating factors MS relapses (exacerbations): new or recurrent MS symptoms lasting longer than 24 hours Trauma, stress, infection, pregnancy Heat, fatigue, dehydration Diagnosis Evidence of damage must be present in 2 separate areas of the CNS and at 2 separate times (1 mo apart) ➤ Magnetic resonance imaging (MRI): two separate lesions (plaques) in CNS ➤ Spinal tap (lumbar puncture): elevated immunoglobulin (Ig) levels and presence of Ig bands Types of MS Relapsing-remitting: short-duration attacks with full or partial recovery ➤ May or may not leave permanent defects Primary progressive: steady decline of function without attacks Secondary progressive: initially relapsing-remitting type followed by decline of func- tion without periods of remission Figure 36. Types of Multiple Sclerosis. Medical management Immunosuppressant drugs: treat acute flare-ups and shorten duration of episodes ➤ Adrenocorticotropic hormone (ACTH) and steroids (prednisone, dexamethasone) Interferon drugs: slow progression of disease ➤ Brand names: Avonex, Betaseron, Copaxone Book_5566_Ch06.indd 136 18-04-2024 22:17:07  Neuromuscular Physical Therapy 137 Spasticity drugs: manage spasticity, if present ➤ Baclofen, baclofen pump, diazepam (brand name: Valium), dantrolene Urinary drugs: control incontinence; oppose acetylcholine to reduce spasms in smooth muscles (bladder) ➤ Anticholinergic drugs Physical therapy treatment: Conservative management Do not overly fatigue and avoid overheating ➤ Teach energy conservation and pacing, as well as heat management ‡ Must monitor for MS-related fatigue ⚬ Often associated with thermal stress; treat with rest and cooling ➤ Keep an activity diary Create optimal schedule, specifically a distributed practice schedule ➤ Goal is to increase duration before intensity ➤ Schedule in morning Table 33. Exercise Prescription. Frequency 3–5 times/wk (alternating days) Intensity Low (3–5 METsa) 50%–70% VO2 submaxb Time 30 min per session Type Cycle, walk, swim Circuit training may be best a MET, metabolic equivalent of task, which is the energy used in a physical activity expressed relative to the resting metabolic rate. 1 MET = 1 kcal · kg−1·h−1 = 3.5 (mL of O2) · kg−1 · min−1. b VO submax ≈ 85% VO max, where VO max is an individual’s maximal oxygen uptake. 2 2 2 Optimize mobility and minimize loss ➤ Restorative treatment and functional maintenance Incorporate flexibility exercises ➤ Wheelchair-dependent patients commonly have tight hip flexors, adductors, ham- strings, and plantar flexors ➤ Bed-ridden patients commonly have tight hip and knee extensors and plantar flexors Emphasize coordination and balance ➤ First, focus on static postural control (holding) in weight-bearing and antigravity postures (sitting, quadruped, kneeling) ➤ Progress by changing base of support (BOS) and center of mass (COM) ➤ Joint approximation and rhythmic stabilization → promote stability Include spasticity management ➤ Employ antigravity muscles (quadriceps; hip adductors; plantar flexors; elbow, wrist, and finger flexors; shoulder adductors) ➤ Physical therapy treatment should be based on when patient had baclofen (want it to be in middle of dose cycle) ➤ Increased tone may be due to a fever or infection; in this case, it would be appropri- ate to refer patient for further medical attention ➤ Positioning schedule ➤ Cryotherapy can be used short term to help reduce spasticity (slows down clonus and nerve impulses) ➤ PNF techniques and prolonged stretching (30 min–3 h) are beneficial ‡ Reciprocal inhibition is useful ‡ Focus on lower extremity (LE) flexion with trunk rotation ‡ Ballistic stretching is contraindicated Observe for urinary tract infections (UTIs) and respiratory infections ➤ Common causes of death Book_5566_Ch06.indd 137 18-04-2024 22:17:07  138 NPTE Final Frontier – Mastering the NPTE Parkinson disease (PD) Chronic progressive neurodegenerative disorder Depletion of dopamine from substantia nigra in the basal ganglia (BG) Loss of inhibitory dopamine results in excessive excitatory output from cholinergic system (acetylcholine) of BG ➤ Acetylcholine: main transmitter for parasympathetic nervous system (PNS) As disease progresses and neurons degenerate, Lewy bodies accumulate Etiology Infection (postencephalitic parkinsonism), atherosclerosis, idiopathic, toxin- or drug-induced Parkinsonism: S/S like PD but without the official diagnosis S/S Appear after 40% damage Mnemonic: “TRAP” ➤ T = resting Tremor: pill rolling presentation ‡ Worsens with emotional stress ‡ Often occurs first in one hand ➤ R = Rigidity: affects agonist and antagonist (not velocity-dependent) ‡ In early stages, often asymmetrical and involves proximal muscles (shoulders and neck) ⚬ Progresses to involve muscles of face and extremities ‡ Cogwheel rigidity: jerky ratchetlike resistance to passive range of motion (PROM) ⚬ Occurs when tremor exists with rigidity ‡ Lead-pipe rigidity: sustained resistance to PROM with no fluctuations ⚬ Next, inspect voluntary repetitive movements to determine active limita- tions due to rigidity ➤ A = Akinesia (cannot initiate movement) and bradykinesia (slow movements) ‡ Akinesia in later stages of PD ‡ Freezing episodes (fixed postures) ‡ Difficulty with sit-to-stand transfers ➤ P = Postural instability ‡ Thoracic kyphosis; head forward posture ‡ Decreased trunk rotation and arm swing ⚬ Emphasize trunk rotation (facilitation, PNF, rhythmic initiation) ⚬ Cross midline ‡ Leaning forward or backward when upright Festinating gait: progressive increase in speed with short stride → quick shuffling ➤ Unable to stop on command ➤ General lack of extension; stooped posture ➤ Gait can be anteropulsive → forward festinating gait ‡ Can treat by adding toe wedge or flat heel to displace center of gravity (COG) posteriorly ‡ Often prescribing a rolling walker is contraindicated due to forward festinat- ing gait Freezing of gait: sudden abrupt inability to initiate any movement ➤ Cognitive load (eg, counting) and music help ➤ Climbing stairs can be easier than walking for some with PD due to visual cues ➤ Doorways or turns can lead to freezing episodes Hypophonia: decreased volume of speech ➤ Mutism and masklike face (hypomimia) (infrequent blinking, lack of expressions) in advanced stages Dysphasia, dysarthria Orthostatic hypotension: common ➤ Cardiac arrhythmias uncommon in PD Book_5566_Ch06.indd 138 18-04-2024 22:17:07  Neuromuscular Physical Therapy 139 Decreased ROM: from disuse and inactivity ➤ Contractures common in flexors, adductors, rotators, and plantar flexors ➤ Kyphotic posture (stooped) with head forward ‡ Due to weak antigravity muscles ➤ Often OP with risk of fracture (Fx) Akathisia: Extreme restlessness Autonomic changes ➤ Sialorrhea: excessive saliva production; drooling ➤ Abnormal thermoregulation: excessive sweating ➤ Seborrhea: excessive secretion of sebum; greasy skin ➤ Urinary incontinence and erectile dysfunction Reduced endurance ➤ Fatigue is one of the most common symptoms ‡ Often due to progressive sympathetic denervation of the heart ‡ Altered heart rate (HR) and blood pressure (BP) Decreased thoracic expansion ➤ Restrictive lung disease ➤ Low inspiratory reserve capacity (IRC), forced vital capacity (FVC), and forced expiratory volume in 1 second (FEV1) and higher residual volume (RV) ➤ Cardiovascular disease (CVD) and pneumonia are most common causes of death ➤ Erratic breathing ‡ Due to dyskinetic movement patterns of respiratory muscles Poor dexterity: smaller writing (micrographia) Dysthymic disorder: chronic depression Early S/S: anosmia, sleep disorders, constipation ➤ Insomnia at night and excessive daytime sleepiness Examination It is important to ask if patient has taken dopaminergic medication prior to examina- tion or treatment Bradyphrenia: slowing of thought process Dementia in late stages (Lewy body dementia) Poor dual-tasking Decreased muscle strength due to disuse atrophy Treatment Becomes increasingly more challenging to manage with stage 3 or higher Caregiver education and training is key to keeping individual safely ambulating in the home Taking medications consistently and on a fixed schedule is also key For home exercise program (HEP), patient should be prone lying for flexion contractures For festinating gait, use a toe wedge to displace COG backward ➤ Do not want to increase cadence or stride length ➤ Improve the limits of stability and improve the alignment of the center of pressure (focus on reducing anterior displacement) Levodopa/carbidopa combination (brand name Sinemet): gold standard drug ➤ Examine for end-of-dose deterioration, on–off phenomenon ‡ Sudden change with loss of function, immobility, and severe dyskinesia ➤ Ensure that physical therapy occurs when patient is in an “on phase” of medication (1 hour after administration) ➤ Effective for approximately 4 to 6 years (wears off after this time frame) ➤ Long-term adverse effects of medication use ‡ Dyskinesia: dynamic involuntary movements ⚬ Occurs at peak levodopa dose or transition between “on” and “off” phases ‡ Dystonia: prolonged involuntary contraction (twisting, torsion) ‡ Nausea and vomiting ‡ Orthostatic hypotension (but no bradycardia) ‡ Arrhythmias Book_5566_Ch06.indd 139 18-04-2024 22:17:07  140 NPTE Final Frontier – Mastering the NPTE ‡ Hallucinations Anticholinergic drugs: used to control tremor ➤ Can cause visual disturbances (blurred vision, photophobia, presbyopia) Amantadine: enhances dopamine release Selegiline (l-deprenyl): used in early stages to slow progress of disease Deep brain stimulation: in thalamus or subthalamic nucleus Huntington disease (HD) Autosomal-dominant progressive neurodegenerative disorder; caused by cytosine-ade- nine-guanine (CAG) trinucleotide repeat Degeneration of BG and cerebral cortex Most common age range for diagnosis is 35 to 55 years S/S Movement disorders ➤ Chorea: involuntary, rapid, irregular or jerky movements ‡ Upper extremity (UE) more commonly involved ➤ Dystonia: rigidity, muscle contractures ➤ Difficulty with physical production of speech and swallowing ➤ Slow or abnormal eye movements Cognitive decline Behavioral changes Basal ganglia disorders Hyperkinesia: abnormally increased muscle activity or movement Hemiballismus: sudden, violent, and large-amplitude flailing motions of arm and leg on 1 side of body (unilateral) ➤ Axial and proximal muscles most commonly affected ➤ Due to lesion in the C/L subthalamic nucleus ➤ “Hemi” = half Dystonia: rigidity or muscle contracture (agonist and antagonist) ➤ Causes abnormal posturing (dystonic posture) or twisting movement ➤ Common in trunk and extremities ➤ Spasmodic torticollis can occur Athetosis: “wormlike ” movements (can occur) ➤ Slow, involuntary writhing or twisting ➤ Distal UE commonly involved (hyperextension to hyperflexion of wrist and fingers) Amyotrophic lateral sclerosis (ALS) Degeneration of anterior horn cells and corticobulbar and corticospinal tract Fatal → up to 5-year life expectancy following diagnosis (progressive disease) S/S UMN and LMN presentation without sensory loss ➤ Only motor neurons are affected ‡ Decreased amplitude and duration of motor unit action potentials ‡ Decreased polyphasic action potentials No change in sensory-evoked potentials (no sensory issues) Cervical spine extensor weakness is common Denervated muscles (twitching and cramping are common) ➤ Muscle atrophy and fasciculations (LMN) Spasticity, hyperreflexia (UMN) Dysphagia, dysarthria, pseudobulbar palsy (bulbar onset) ➤ Pseudobulbar affect: random laughing or crying (change in emotion) for no ­apparent reason Book_5566_Ch06.indd 140 18-04-2024 22:17:07  142 NPTE Final Frontier – Mastering the NPTE Observed after respiratory or gastrointestinal (GI) infection or diarrheal illness, surgery, vaccination, or childbirth S/S Rapid onset of weakness (distal → proximal) ➤ Symmetrical, bilateral, ascending ➤ Symptoms peak at 2 to 3 weeks (not > 4 weeks) Motor and sensory S/S: must monitor skin integrity ➤ Glove and stocking presentation Pain in large muscles → stiffness and cramping ➤ Start with stretching, followed by strengthening Respiratory muscle involvement ➤ May require a mechanical ventilator in the later stages Elevated HR and variable BP (low or high) Facial and oral motor weakness: vision, speech, swallowing ➤ CN VII, IX, and X (facial, glossopharyngeal, and vagus nerves) ➤ When the facial nerve is affected, symptoms can mimic Bell palsy (LMN) Diagnosis Lumbar puncture (LP) → cerebrospinal fluid (CSF) contains more proteins Clinical exam → symmetrical, bilateral, ascending Tests → blood and urine samples, electromyography (EMG) tests, and nerve conduc- tion studies Assess skin integrity with acute exacerbation Table 35. Differential Diagnosis. Characteristic ALS GBS MS Cause Idiopathic, genetic Viral infection History of bacterial or viral illness Respiratory infection Signs UMN and LMN LMN UMN Age and sex Mid-to-late 50s Any age 20–40 years Males and older adults at risk Common in females Characteristic Fasciculation Symmetric progression of Optic neuritis presentations Loss of paralysis from LEs to UEs Blurred or double vision dexterity Ascending progression Fatigue, weakness Bilateral, symmetrical Trigeminal neuralgia progression Bladder incontinence Heat intolerance Paresthesia (most common) Progression and Rapid Progressive over 3–7 days Rarely fatal prognosis Death usually However, majority recover well Life expectancy may be occurs within within a few weeks to a few shortened by only a few 5 years months months Abbreviations: ALS, amyotrophic lateral sclerosis; GBS, Guillain–Barré syndrome; LE, lower extremity; LMN, lower motor neuron; MS, multiple sclerosis; UE, upper extremity; UMN, upper motor neuron. TRAUMATIC BRAIN INJURIES Types of brain damage Primary brain damage Diffuse axonal injury: disruption and tearing of axons and small blood vessels from shearing ➤ Results in neuronal death and petechial hemorrhages Focal injury: contusions, lacerations, mass effect from hemorrhage and edema (hematoma) Coup–contrecoup injury: injury at point of impact and opposite point of impact Book_5566_Ch06.indd 142 18-04-2024 22:17:08