Neuromuscular Disorders Flashcards
Disease caused by an absence of hexosaminidase (Hex-A)
Tay Sach’s Disease
Enzyme needed to break down a particular lipid in the brain and CNS
Hexosaminidase (Hex-A)
Tay Sach’s is an autosomal _________ disease
Recessive
Tay Sach’s disease primarily impacts isolated and inbred groups/cultures such as
Amish, Cajun, Eastern European Jewish heritage
What is the chance of an offspring inheriting an autosomal recessive disease?
25% (1 in 4)
Tay Sach’s Disease behaviors
Progressive neurological deterioration, blindness, cherry red spot on macula
Tay Sach’s Disease onset
Most commonly early onset (infant) with death usually before age 4
progressive symptoms of the CNS related to Tay Sach’s Disease
Decreased muscle tone, visual difficulties, seizures
T or F: males and females are affected equally with an autosomal recessive disorder
True
Tay Sach’s disease diagnosis
Determine activity of Hex-A (serum, leukocytes, tears, body tissue), genetic testing
Tay Sach’s disease treatment
Supportive (PT, OT, neurology, anticonvulsants, palliative care)
T or F: there is a cure for Tay Sach’s Disease
False
A chronic and progressive autosomal dominant disease of the nervous system
Huntington’s Disease
Huntington’s Disease affects men and women ___-___ years old
35-45
Huntington’s Disease symptoms are caused by a deficiency of what two neurotransmitters?
Acetylcholine and GABA
The deficiency of acetylcholine and GABA in Huntington’s Disease causes premature death of cells in the
Basal ganglia, cortex, cerebellum
The basal ganglia play a role in
Movement
The cerebral cortex plays a role in
Thinking, memory, judgement, perception
The cerebellum plays a role in
Voluntary muscle activity
Huntington’s Disease (autosomal dominant) inheritance
50%
Huntington’s Disease behaviors
Chorea, athetosis, facial tics/grimaces, slurred speech, dementia, emotional instability
Huntington’s Disease diagnosis
Presence of behaviors, family hx, genetic testing
Management of Huntington’s Disease
Dopamine receptor blockers for chorea, antidepressants, supportive care
What is deutetrabenazine (Austedo) and what is it given for?
Dopamine receptor blocker given for chorea or involuntary movement associated with Huntington’s Disease
What medication can be given for dementia in the early stages of Huntington’s Disease?
Aricept
Huntington’s Disease supportive care
Speech, OT, PT, genetic counseling, psychiatric therapy
Lou Gerhig’s Disease is another name for
Amyotrophic Lateral Sclerosis (ALS)
Progressive deterioration of motor neurons in the spinal cord (anterior horn), some cranial nerves, and cerebral cortex (axon and muscular atrophy)
Amyotrophic Lateral Sclerosis (ALS)
What gender is most affected by ALS?
Males
General behaviors of ALS
Muscle atrophy and spasticity
ALS behaviors with lower motor neuron involvement
Muscle weakness and atrophy, fasciculations (twitching)
ALS behaviors with upper motor neuron involvement
Spasticity, hyperreflexia, (+) babinski
ALS behaviors with lower cranial nerve involvement
Drooling, speech problems
What is the ultimate cause of death in a patient with ALS?
Atrophy of respiratory muscles
ALS medical diagnosis
Electromyography (EMG), muscle biopsy
ALS medical treatment
PO Rilutek (Riluzoke; glutamate antagonist) and Radicava (edaravone) IV q14 days to slow progression
Cause of ALS
Unknown; multifactorial (neurological trauma, genetics, etc.)
An autoimmune disease characterized by a defect in transmission of impulses at the neuromuscular junction and loss of available receptors
Myasthenia Gravis
In Myasthenia Gravis, the body stops recognizing _________ receptors as part of self and attacks these receptors
Acetylcholine
Neurotransmitter responsible for carrying nerve impulses
Acetylcholine
Myasthenia Gravis Behaviors
Weakness and fatigue, Ptosis and double vision, mouth open, sagging jaw, expressionless face, “snarl-like” smile
Describe of Myasthenia Gravis progresses
Upper extremities affected before lower extremities; proximal (center) affected before distal (disease spreads outwardly)
What is the first sign of myasthenia gravis in 50% of affected individuals?
Ptosis/double vision
T or F: myasthenia gravis is characterized by flares and periods of remission
True
Myasthenia gravis main concern
Loss of respiratory function (mechanical ventilator may be needed)
Myasthenia Gravis medical diagnosis
Antibodies for Ach receptors
Myasthenia Gravis pharmacological management
Anticholinesterases, long-term corticosteroids (immunosuppressives)
Myasthenia Gravis can be managed by replacing plasma in the body that contains abnormal antibodies with other fluids. This is known as
Plasmapharesis
Plasmapharesis considerations
Indicated for MG crisis; not a long-term treatment or cure
Myasthenia Gravis surgical management that may remove the source of abnormal antibody production that causes the disease
Thymectomy
In patients with myasthenia gravis, ___% have complete remission of disease following a thymectomy, while ___% may have no effects
70; 30
Myasthenia Gravis complications
Cholinergic crisis, myasthenia crisis
In a patient with Myasthenia Gravis, a cholinergic crisis may be the result of
Over-medication (too much anticholinesterase)
Myasthenia Gravis cholinergic crisis treatment
Atropine, discontinue med, ventilate
Myasthenia crisis triggers
Under-medication, exacerbation of disease, illness/flu, change in meds, pregnancy
Myasthenia crisis interventions
Tensilon, ventilation, absolute quiet and bed rest
S/S of myasthenia crisis
Tachycardia, respiratory distress (cyanosis, absent cough/gag reflex, dysphasia)
Cholinergic crisis behaviors
SLUDGE: salivation, lacrimation, urination, diarrhea, GI upset, emesis; bradycardia
Degenerative disease of basal ganglia, part of the extrapyramidal system, causing an imbalance between acetylcholine and dopamine
Parkinson’s Disease
Hallmark feature of Parkinson’s Disese
Loss of dopaminergic neurons in substantia nigra (in basal ganglia) and other areas of brain
The extrapyramidal system (EPS) controls
Voluntary muscle movement
In Parkinson’s Disease, Acetylcholine is too ____ and Dopamine is too ____
High; low
Goal of treatment for Parkinson’s Disease
Increase supply of dopamine or block/lower acetylcholine levels
Myasthenia Gravis is 3x more common in
Females BUT if onset over age 50, then more common in males
Parkinson’s Disease is more common in _____ and incidence increased with ___
Men; Age
Most Parkinson’s Disease deaths are from
Falls and pneumonia
Parkinson’s Disease onset
50-70 years of age
T or F: symptoms such as slowness, stiffness, and muscle pain usually begin on one side in patients with Parkinson’s Disease
True
Parkinson’s Disease stimuli/causes
Multifactorial (genetics, environmental — agricultural chemicals, heavy metals)
What are the four cardinal symptoms of Parkinson’s Disease?
Tremor (head-bob, pin roll), muscle rigidity, bradykinesia, postural instability
Aside from the four cardinal symptoms, what are other symptoms of Parkinson’s Disease?
Shuffling gait, stooped posture, muscle rigidity, mask-like facial expression, akinesia (absence/poverty of normal movement) arms do not swing when walking, changes in handwriting (micrographia), drooling
Parkinson’s Disease diagnosis
Based on symptoms, hx, and assessment; unified Parkinson’s disease rating scale (UPDRS), DaTscan
Radioactive drug that determines how much dopamine is in the brain for diagnosis of Parkinson’s disease
DaTscan
Parkinson’s disease management
Drug therapy (mainstay), self-help devices for ADLs, rehabilitation, warm baths and massages to relax muscles, raised toilet seat, long-handle comb and razor, ROM to loosen joints and prevent deformities
Goal of Parkinson’s management
Maintain ADLs and independence as long as possible
Surgical management of Parkinson’s Disease
Deep Brain Stimultion (DBS) and experimental measures such as adrenal cell transplant and fetal tissue transplant
Group of permanent disorders of the development of movement and posture, causing activity limitations, that are attributed to nonprogressive damage that occurred in the developing fetal or infant brain
Cerebral palsy
Most common clinical type of cerebral palsy (CP) that most often presents as hypotonia (developmental delay)
Spastic
Type of cerebral palsy that involves all four extremities resulting in severe disability
Quadriparesis (tetraparesis)
Behaviors of quadriparesis CP
Speech and swallowing difficulties, tongue protrusion (incomplete), labile emotions in some patients
What is the single most important determinant of CP?
Preterm birth or ELBW/VLBW
What is the most common cause of brain damage in CP cases?
Anoxia
Prenatal risk factors for CP
Brain abnormalities, genetics, intrauterine infections, LBW infants, placental insufficiency (70%)
Perinatal (at birth) risk factors for CP
Jaundice, infection acquired at birth, asphyxia (cord)
Postnatal risk factors for CP
TBI, infections, stroke, skaken baby, near drowning
Clinical S/S of CP
Increased OR decreased muscle tone, arching of back, poor head control, inability to sit up by 8 mo, seizures/epilepsy, random/uncontrolled body movements, balance/coordination problems, eating/swallowing impairment, learning difficulties, behavioral problems, visual/hearing problems, sleeping problems
Spastic signs of CP
Increased muscle tone, tension, and resistance resulting in stiffness and unnatural positioning of limbs
Non-spastic signs of CP
Floppy, inability to maintain posture, poor coordination
Signs of CP in infants 2 months and older
Difficulties controlling head when picked up, stiff/shaking arms or legs, stiff legs that cross or “scissor” when picked up, problems with sucking and feeding
Signs of CP in infants 6 months and older
Poor head control when picked up, reaching with one hand while the other is in a fist, problems eating and drinking, may not roll over w/o assistance
Signs of CP in infants 10 months and older
Crawls by pushing off with one hand and leg while dragging opposite hand and leg, does not babble, unable to sit up on own, does not respond to own name
Signs of CP in infants 12 months and older
Does not crawl or attempt to pull themselves up, unable to stand w/o support, does not search for things that they see you hide, does not say single words like “mama” or “dada”
CP is characterized as a _________ _________ neuromuscular disorder
Severity spectrum
CP diagnosis for high risk infants
Additional screening required for infants born preterm/LBW and/or low agar after 5 min
CP diagnosis through physical exam
Assess muscle tone (stiff or floppy), primitive reflexes, milestones (sit, stand, walk)
CP diagnosis MRI
Lesion found in movement center of brain
CP management
Team approach, early intervention program and services, supportive therapy, promote socializtion
T or F: CP is a progressive disease
False
CP is more common in
Boys and African American children
CP is related to prenatal, perinatal, and postnatal _____ damage
Brain
CP is typically diagnosed by age
3
Mobilizing devices for patients with CP
Braces, scooters, walkers, strollers
Medications for CP
Antispasmodics, skeletal muscle relaxants, phenol nerve block, anticonvulsants, laxatives/stool softeners, anticholinergics
Technical aids for CP
Voice synthesizers, computers for communication, picture boards
CP surgery
If physical therapy is not adequate: Tendon release (decrease spasticity), spinal fusion/correction
Therapeutic regimen for patients with CP
PT, OT, education (public school), recreation, speech therapy
Gradual progressive degeneration of muscle fibers
Muscular Dystrophy (MD)
Inherited X-linked recessive disease that primarily affects males
Muscular dystrophy
General symptoms/behaviors of muscular dystrophy
Muscle weakness (primary), Gowers sign, pseudohypertrophy (enlarged calf), arched back, foot drop and tripping, toe walking, contractures, scoliosis
Muscular dystrophy major cause of death
Respiratory and cardiac failure
Types of muscular dystrophy
Duchenne’s (DMD), Becker’s, Myotonic (Steinert), Spinal muscular atrophy (SMA)
Most common type of muscular dystrophy caused by absent dystrophin protein
Duchenne’s (DMD)
Diagnosis of Duchenne’s typically occurs before age
10
Less common and less severe type of muscular dystrophy caused by malformation of dystrophin protein
Becker’s
Diagnosis of Becker’s muscular dystrophy is typically between ages
10-20
Duchenne’s MD (pseudohypertrophy) timeline of symptoms
Usually begin to see S/S by age 3, wasting and weakness increase w/ calf muscle hypertrophy, loss of independent ambulation by age 10, wheel-chair bound by age 15, death r/t cardiac or respiratory arrest by age 25
Attaining a standing posture by assuming a kneeling position, then gradually pushing torso upright (with knees straight) by “walking” hands up legs
Gower’s sign
MD diagnosis
Clinical manifestations, hx of behaviors/symptoms, DNA test (mutations in dystrophin), EMG (how muscles respond to electric activity), muscle biopsy (increase serum creatine kinase reveals degeneration)
MD complications
Contractures, disuse atrophy, weight gain (esp. after starting use of wheelchair), cardiac and pulmonary complications (late stage)
1 goal of MD treatment
Maintained independence and function as long as possible and prevent complications
MD treatment
Palliative, symptomatic, supportive
Interventions to minimize deformity in patients with MD
ROM, PT, ortho procedures and surgery (for scoliosis; usually by age 13)
Indications of corticosteroids such as prednisone for MD
Increase muscle bulk and strength, improve respiratory function, prolonged ambulation, decrease incidence of cardiomyopathy and scoliosis
Recommendation for family of patient with MD
Genetic and family counseling
Chronic, progressive, degenerative disorder of the CNS characterized by destruction and scarring of the myelin sheath which impedes nerve impulses
Multiple Sclerosis (MS)
Disease of young to middle-aged adults (20-50) that affects women 2-3x more than men and is 5x more prevalent in temperate climates than tropical
Multiple Sclerosis
What are the four types of MS?
Relapsing-remitting, primary-progressive, secondary-progressive, progressive-relapsing
Most common type of MS characterized by acute attacks with full/partial recovery between attacks
Relapsing-remitting
Type of MS characterized by progression of disability from onset WITHOUT plateaus/remissions or with occasional minor improvements
Primary-progressive
Type of MS characterized by progression at a variable rate, occasional relapses, and minor remissions
Secondary-progressive
Least common type of MS characterized by progression from onset with clear acute relapse with or without full recovery
Progressive-relapsing
MS generally affects women between the age of
20 and 40
Chronic inflammation, demyelination, and scarring of the CNS
MS
MS results from an autoimmune response orchestrated by autoreactive _____
T-Cells
MS is perpetuated by faulty
Immunoregulation
In MS, _____ lesions are the initial inflammatory response by _____ lesions result in scarring and hard sclerotic plaque
Acute; chronic
Characteristics of MS remissions
Typical occur after onset of symptoms and can be 1-3 months or maybe even years, recovery incomplete with successive attacks (exacerbations), results in more permanent damage after each one
MS behaviors
Insidious onset, diverse presentation depending on location of plaque formation, frequent visits to Dr attempting to make sense of symptoms (difficult to diagnose)
CNS symptoms of MS
Fatigue, cognitive impairment, depression, unstable mood
Visual symptoms of MS
Nystagmus, optic neuritis, diplopia, faded color, loss of sight possible
Speech symptoms of MS
Dysarthria
Throat symptoms of MS
Dysphagia
Musculoskeletal symptoms of MS
Weakness/one-sided weakness, muscle and joint spasms, ataxia, paralysis, heaviness of 1 leg, abnormal gait, foot dragging and poor control, fatigue
Sensory symptoms of MS
Pain, paresthesias, numbness, tingling, impaired proprioception, decreased temperature sensation, crawling sensation
GI symptoms of MS
Incontinence, diarrhea, constipation
Urinary symptoms of MS
Incontinence, frequency or retention
T or F: fatigue worsens as day goes on in patients with MS
True
Sexual dysfunction related to MS in women and men
Women: decreased libido, decreased orgasmic sensation
Men: erectile and ejaculatory dysfunction
_________ may cause some women to experience MS remission with improvement during ________ due to hormonal changes
Pregnancy; gestation
Pregnant women are at increased risk of MS exacerbation _________
Postpartum
Life expectancy is >___ years post MS diagnosis
25
Death from MS usually results from
Infectious complications, immobility, or other dx
MS diagnosis
Based primarily on hx, manifestations, and presence of multiple lesions over time; MRI, Lumbar puncture and CSF fluid exam, Basic Protein Assay (BPA)
MS diagnosis that checks for plaque and random scarring and reveals lesions as small as 3-4 cm
MRI
CSF fluid exam through lumbar puncture for MS diagnosis
Reveals increased levels of immunoglobulin G, lymphocytes, and monocytes
MS diagnostic that checks for presence of active demyelination
BPA
Primary pharmacological treatment for MS
Corticosteroids such as methyloprednisolone/ACTH/Prednisone/Decadron
Corticosteroids for MS indications
Resolve edema, improve clinical symptoms of acute exacerbations, decrease inflammatory response
Corticosteroids for MS consideration
Does NOT cure or alter course nor decrease # of future exacerbations
Adjunctive medications for MS
Muscle relaxants, CNS stimulants, anticholinergics, cholinergics, TCAs, Anticonvulsants
Muscle relaxants for MS
Baclofen, diazepam
CNS stimulants for MS
Ritalin, cylert, provigil
MS Interprofessional collaboration for symptom management
PT, OT, speech
MS symptom management interventions
Balance exercise and rest, resistive/stretching exercises, psychotherapeutic drugs, hydrotherapy (warm mattress), nutrition, assistive devices
Assistive devices for MS
Braces, splints, wheelchair
