NPTE Neuromuscular: Neuromuscular Pathologies

What is Alzheimer's disease

progressive neurological disorder that results in deterioration and irreversible damage within the cerebral cortex and subcortical areas of the brain

What are most likely causes of development of AD

neurofibrillary tangles within cytoplasm, amyloid plaques, cerebral atrophy

What is most likely clinical presentation of AD

- initially: subtle changes in memory, impaired concentration, difficulty with new learning

- early stage: loss of orientation, word finding difficulties, emotional lability, depression, poor judgement, impaired ability to perform self care skills

- middle stage: behavioral and motor problems, aphasia, apraxia, perseveration, agitation and violent or socially unacceptable behavior, wandering

- late stage: severe intellectual and physical destruction

What is Amyotrophic Lateral Sclerosis (ALS)

chronic degenerative disease that produces both upper and lower motor neuron impairments

what is most likely cause of ALS

rapid degeneration and demyelination occur in the giant pyramidal cells of the cerebral cortex and affect areas of the corticospinal tracts, cell bodies of the lower motor neurons in the gray matter, anterior horn cells, and areas within the precentral gyrus of the cortex

what is most likely clinical presentation of ALS

- LMN: asymmetric muscle weakness, cramping and atrophy within the hands

- UMN: incoordination of movement, spasticity, clonus, positive Babinski

- Bulbar: dysarthria, dysphagia, emotional liability

what tests are used to diagnose ALS

- electromyography: fibrillation and muscle fasciculations

- muscle biopsy: verifies lower motor neuron involvement

throughout the course of ALS, what is preserved

sensation, eye movement, bowel/bladder function

What is anterior cord syndrome

incomplete spinal cord lesion in which the anterior two-thirds of the spinal cord is damaged

what is most likely cause of anterior cord syndrome

cervical flexion injury, disk protrusion, aortic pathology

what is most likely clinical presentation of anterior cord syndrome

complete loss of motor function and loss of pain and temperature sensation bilaterally below the level of the lesion

what imaging is used to confirm anterior cord syndrome

MRI

What is Bell's Palsy

acute onset of sensory and motor defiits in structures supplied by the facial nerve

what is most likely cause of Bell's Palsy

viral --> most commonly by herpes simplex virus

what is most likely clinical presentation of Bell's Palsy

- sudden or progressive

- feeling of generalized stiffness or tightness

- facial drooping

- difficulties with motor skills: eye/mouth closure, eating, facial expressions

- decreased taste sensation

- altered tear and saliva production

- increased auditory sensitivity

what imaging can be done to confirm Bell's Palsy

MRI or CT

What is likely outcome of a course of physical therapy for Bell's Palsy

full recovery can take up to 6 months

What is Cauda equina syndrome

peripheral nerve injury resulting from damage and loss of function involving two or more nerve of the cauda equina

What is most likely causes of cauda equina syndrome

spinal structure pathology, trauma, infectious conditions, tumor, iatrogenic factors

What is most likely clinical presentation of cauda equina syndrome

- slow or rapid progression

- altered reflexes

- pain

- decreased strength and sensation

- severe back pain

- functional impairment

- diminished sensation in saddle distribution

- bowel and bladder dysfunction

- sexual dysfunction

What imaging is done to confirm cauda equina syndrome

MRI

What is arthrogryposis multiplex congenita

non-progressive neuromusculaur disorder occuring during first trimester in utero

most likely causes of arthrogryposis multiplex congenita

poor movement during early development due to myopathic, neuropathic or joint abnormalities

most likely clinical presentation for arthrogryposis multiplex congenita

- cylinder-like extremities with minimal definition

- significant and multiple contractures

- dislocation of joints

- muscle atrophy

what is autism spectrum disorder

group of complex brain development disorders taht are characterized by difficulties with social interaction, communication and repetitive behaviors

what is most likely clinical presentation for autism spectrum disorder

- non-purposeful speech or complete absence

- diminished facial expressions

- inability to understand nonverbal cues

- limited interest or awkwardness in social interactions

- lack of empathy

- defensiveness or indifference towards sensory stimulation

- repetitive self-stimulating behaviors

- perseverations

- preoccupation with routine and rituals

- decreased coordination

Cerebellar disorders: characteristics of congenital malformations

- manifest early in life

- non-progressive

- ataxia usually present

Cerebellar disorders: characteristics of hereditary ataxias

- autosomal recessive or autosomal dominant

- most common autosomal recessive is Friedreich's

- gait unsteadiness

- upper extremity ataxia

- dysarthria

- paresis

- mental function decline

- slight tremors

- impaired reflexes, vibration and position sense

Cerebellar disorders: characteristics of spinocerebellar ataxia

- main autosomal dominant

- neuropathy

- pyramidal signs

- ataxia

- restless leg syndrome

Cerebellar disorders: main causes of acquired ataxias

- non hereditary neurodegenerative systemic disorders (alcoholism, hypothyroidism, vitamin E deficiency)

- toxin exposure (carbon monoxide, heavy metals, lithium)

- idiopathic

what is diabetic neuropathy

- complication and direct effect of DM

- nerve ischemia results from microvascular disease combined with the direct effects of hyperglycemia on neurons resulting in the impairment of nerve function

most likely cause of diabetic neuropathy

diabetes mellitus

Factors that can lead to diabetic neuropathy

- metabolic factors

- high blood glucose

- duration of DM

- neurovascular factors

- impairment with transport of oxygen and nutrients to nerve

- autoimmune factores

- inflammation in nerves

- inherited traits

- impact of environmental and lifestyle choices

most likely clinical presentation of diabetic neuropathy

- weakness and sensory disturbances distally and symmetrically

- wasting of muscles in feet or hands

- tingling or numbness

- pain in feet

- orthostatic hypotension

- weakness

- urinary impairments

what is carpal tunnel syndrome

compression of median nerve where it passes through the carpal tunnel

what structures make up the carpal tunnel

- transverse carpal ligament

- scaphoid tuberosity

- trapezium

- hook of hamate

- pisiform

- volar radiocarpal ligament

- volar ligamentous extensions between carpal bones

what is most likely causes of carpal tunnel syndrome

- edema

- tumor

- fibrosis

- repetitive use

- RA

- pregnancy

- diabetes

- trauma

- hypothyroidism

- wrist sprain/fracture

what is most likely clinical presentation of carpal tunnel syndrome

- sensory changes and paresthesia along median nerve distribution

- radiation of symptoms to UE, shoulder, neck

- night pain

- weakness of hand

- muscle atrophy

- decreased grip strength

- clumsiness

- decreased mobility

what special tests can be used to help diagnose carpal tunnel syndrome

- Tinel's

- Phalen's

- tethered median nerve stress test

what is likely outcome of a course if physical therapy: conservative and surgical approach

conservative: 4-6 weeks

surgical: 6-8 weeks

what is central cord syndrome

incomplete spinal cord lesion that most often results from a cervical hyperextension injury

what is most likely causes of central cord syndrome

- hyperextension injury of C spine

- cervical spondylosis

- narrowing of spinal canal

- tumor

- RA

- syringomyelia

what is most likely clinical presentation of central cord syndrome

- motor loss that is greater in UE and most severe distally

- sensory loss below level of lesion

what imaging is used to diagnose central cord syndrome

MRI

what additional findings are likely in a patient with central cord syndrome

- autonomic dysreflexia

- spasticity

- neurogenic bladder and bowel

- pressure ulcers

- allodynia

what drug should be administered within 8 hours of central cord syndrome diagnoses to assist with neurologic recovery

methylprednisolone

what is cerebral palsy

umbrella term used to describe a group of non-progressive movement disorders that result from brain damage

what is most likely prenatal risk factors for CP

- Rh incompatibility

- materanal malnutiriton

- hypothyroidism

- infection

- DM

- chromosome abnormalities

what is most likely perinatal risk factors for CP

- multiple or premature births

- breech delivery

- low birth weight

- prolapsed cord

- placenta abruption

- asphyxia

what is most likely postnatal risk factors for CP

- CVA

- head trauma

- neonatal infection

- brain tumor

overall most likely cause of CP

prenatal cerebral hypoxia

what categories is CP commonly classified in

- low tone, high tone, or athetoid

- monoplegia, hemiplegia, quadriplegia

- mild, moderate, severe

what is most likely clinical presentation of cerebral palsy

- motor delays

- abnormal muscle tone and motor control

- reflex abnormalities

- poor postural control

- high risk of hip dislocation

- balance impairments

- intellectual impairments

- visual impairments

- hearing impairments

- altered perceptual skills

what imaging may be performed if CP is suspected, including seizures

EEG

what is a cerebrovascular accident

interruption of cerebral circulation that results in cerebral insufficiency, destruction of surrounding brain tissue and subsequent neurological deficit

what is most likely modifiable causes of cerebrovascular accident

- hypertension

- atherosclerosis

- heart disease

- diabetes

- elevated cholesterol

- smoking

- obesity

what is most likely non-modifiable causes of cerebrovascular accident

- age

- sex

- race

- family history

what is most likely clinical presentation of cerebrovascular accident

- hemiplegia or hemiparesis

- sensory, visual and perceptual impairments

- balance abnormalities

- dysphagia

- aphasia

- cognitive deficits

- incontinence

- emotional lability

what imaging can be done to help diagnose cerebrovascular accident

- CT

- MRI

- PET

most likely presentation of left cerebrovascular accident

- weakness or paralysis to right side

- impaired processing

- heightened frustration

- aphasia

- dysphagia

- motor apraxia

- right hemianopsia

most likely presentation of right cerebrovascular accident

- weakness or paralysis to left side

- poor attention span

- impaired awareness and judgement

- spatial deficits

- memory deficits

- left inattention

- emotional lability

- impulsive behavior

- left hemianopsia

when does down syndrome occur

when there is an errorr in cell division either through nondisjunction or translocation and the cell nucleus results in 47 chromosomes

which pair of chromosomes is responsible for down syndrome

21st chromosomes

what is most likely clinical presentation of down syndrome

- intellectual disability

- hypotonia

- flattened nasal bridge

- almond shaped eyes

- abnormally shaped ears

- Simian line

- epicanthal folds

- enlargement of tongue

- congenital heart disease

- developmental delay

- variety of MSK disorders

what additional findings are likely in patient with down syndrome

- atlantoaxial instability

- sensory, hearing and visual impairments

- umbilical hernia

- respiratory compromise

- Alzheimer's disease

What is Duchenne Muscular Dystrophy

progressive neuromuscular degenerative disorder that manifests symptoms once fat and connective tissue begin to replace muscle that has been destroyed by the disease process

what is most likely clinical presentation of Duchenne muscular dystrophy

- waddling gait

- proximal muscle weakness

- toe walking

- excessive lordosis

- pseudohypertrophy of calf

- difficulty climbing stairs

- Gower's maneuver

Death from Duchenne muscular dystrophy typically occurs due to

cardiopulmonary complications or respiratory muscle dysfunction

What is Erb's Palsy

upper brachial plexus injury or palsy that usually results from a difficult birth

what is most likely cause of Erb's Palsy

- difficult delivery

- large baby with a breech presentation

- prolonged labor

- use of forceps

what is most likely clinical presentation of Erb's Palsy

waiter's tip deformity

- loss of shoulder function

- loss of elbow flexion

- loss of forearm supination

- hand position in pinch grip manner

4 types of brachial plexus injuries

avulsion, rupture, neuroma, neurapraxia

what is epilepsy

chronic central nervous system disorder characterized by epileptic seizures due to abnormal neuronal activity within the brain

what is most likely cause of epilepsy

- brain injury

- infectious disease

- genetic influence

- developmental disorders

what is most likely clinical presentation of epilepsy

- unpredictable and unprovoked

- mood disturbances

- staring

- loss of consciousness

- uncontrollable jerking of arms and legs

- stiffening of msucles

- loss of muscle control

what testing can be done to help confirm epilepsy

EEG

what is polyneuropathy

damage or disease that affects multiple peripheral nerves

what is most likely cause of polyneuropathy

- diabetes mellitus

- advanced age

- certain drugs

- alcohol abuse

- AIDS

- environmental toxins

- inherited neurological conditions

polyneuropathy typically affects peripheral/central nerves and is seen in distal/proximal extremities

peripheral, distal

what is most likely clinical presentation of polyneuropathy

- distal lower extremities

- symmetrical

- numbness

- tingling

- pain in stocking/glove pattern

- loss of position and vibration sense

- ataxia

what testing can be done to help confirm polyneuropathy

EMG and nerve conduction testing

What is Guillain-Barre syndrome

a temporary inflammation and demyelination of the peripheral nerves' myelin sheaths, potentially resulting in axonal degeneration

what is most likely clinical presentation of Guillain-Barre syndrome

- distal symmetrical motor weakness with mild distal sensory impairments

- transient paresthesias

- weakness progresses towards UE and head

- muscle and respiratory paralysis

- absence of DTR

- inability to speak or swallow

what laboratory testing can be done to help diagnose Guillain-Barre syndrome

CSF fluid sample

what additional findings are likely present in a patient with Guillain-barre syndrome

- pelvic floor mm weakness

- deep muscle pain

- ANS involvement (arrhythmia, tachycardia, postural hypotension, heart block)

what is likely outcome of course of physical therapy for Guillain-barre syndrome

3-12 months

What is Huntington's disease

neurological disorder of the CNS and is characterized by degeneration and atrophy of the basal ganglia and cerebral cortex

what is most likely cause of Huntington’s Disease?

genetically transmitted as an autosomal dominant trait with defect linked to chromosome four and gene IT-15

what is most likely clinical presentation of HD

- early: involuntary choreic movements, mild alteration in personality, unintentional facial expressions

- progressing to: ataxic gait, choreoathetoid movement of extremities and trunk, speech disturbances, mental deterioration

- late: decrease in IQ, dementia, depression, dysphagia, incontinence, inability to ambulation, rigidity

what imaging is done to help diagnose HD

MRI or CT

what additional findings are likely in a patient with HD

- loss of ROM

- deformity

- pain

- communication breakdown

- aspiration and choking

- fatigue

- weakness from weight loss

what is multiple sclerosis

demyelination of the myelin sheaths that surround the nerves within the brain and spinal cord, decreasing the efficiency of nerve impulse transmission

what is most likely clinical presentation of MS

- visual problems

- paresthesias and sensory changes

- clumsiness

- weakness

- ataxia

- balance dysfunction

- fatigue

what are the 4 different types of MS

relapsing remitting

secondary progressive

primary progressive

progressive relapsing

what additional findings are likely in a patient with MS

- emotional lability

- depression

- dementia

- psychological problems

- spasticity

- tremor

- weakness

- paralysis

- sexual dysfunction

- loss of bowel and bladder control

what is Parkinsonism syndrome

group of disorders within subcortical gray matter of the basal ganglia that produces a similar disturbance of balance and voluntary movements

what is Parkinson's disease

primary degenerative disorder characterized by a decrease in production of dopamine within the substantia nigra portion of the basal ganglia

what is most likely cause of PD

genetic defect, toxicity from carbon monoxide, excessive manganese or copper, carbon disulfide, vascular impairment of striatum, encephalitis, neurodegenerative diseases

What is most likely clinical presentation of PD

- resting tremor in head or feet that increases with stress

- balance disturbances

- difficulty rolling over in bed

- impairment with fine manipulative movements

- hypokinesia

- sluggish movement

- akinesia

- festinating and shuffling gait

- bradykinesia

- poor posture

- dysphagia

- cogwheel/lead pipe rigidity

- freezing during ambulation

- no facial expression

what is poliomyelitis

neurologic condition characterized by asymmetric weakness and or paralysis caused by a viral infection