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NBCOT Study Guide > Chapter 7 diagnoses > Flashcards

Chapter 7 diagnoses Flashcards

1
Q

Spina bifida occulta:

  • physical presentation
  • Symptoms
A
  • Physical presentation: Bony malformation and separation of vertebral arches with no external manifestations.
  • Symptoms: usually none, can present with mild gait involvement and bowel/bladder control issues
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2
Q

Occulta spinal dysraphism:

  • Physical presentation
  • symptoms
A

Occulta spinal dysraphism:
*Physical presentation: external manifestation (red mark, patch of hair, dermal sinus (opening in skin), fatty tumor, dimple etc are covering site)

*symptoms: May result in cord being split or tethered, may lead to neurological damage and developmental abnormalities as child grows.

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3
Q

Spina Bifida Cystica :
2 types:
presentation:
Symptoms:

A

Spina Bifida Cystica :
presentation: An exposed pouch
2 types:
meningocele- sac protroding with fluid and meninges. Usually no symptoms that affect function but occasionally can present with slight instability, mild gait involvement, bowel/bladder problems

myelomeningocele - sac protruding with fluid, meninges, spinal cord, and nerve roots
Symptoms: sensory and motor deficits below level of lesion. May result in LE paralysis and deformity, bowel/bladder incontinence, decubitus ulcer, DVT

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4
Q

Tethered cord syndrome
what is it?
signs
symptoms

A

what is it? occurs in tail end of spinal cord when cord is stretched as a result of compression, trapped, developmental abnormality, or injury
Signs? hairy patch on spine, hemangioma and/or dimple on spine.
Symptoms? Difficulties with bowel/bladder control, gait disturbances, and/or deformities of feet, low back pain, and scoliosis may result
May go undiagnosed until symptoms emerge, symptoms may be exacerbated with age or pregnancy due to spinal stenosis. Can also be exacerbated by child’s growth spurts

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5
Q

*Shunting Precautions

  • symptoms of blocked shunt
  • within 1st year
  • 2nd year
  • adolescence
  • adults

*signs of infected shunt

A

Shunts can become blocked or infected which is a medical emergency. Immediate notification of signs and symptoms to neurosurgeon is required

Signs of blockage
Signs within first year of life:
-Extreme head growth and soft spot on foramen

Within second year of life:
-Severe headache, vomiting, and/or irritability

adolescents:
-Increasing head size, change in UE function, regression in milestones or decline in academic performance, neck pain, severe headache and/or loss of balance.

Adults:
vomiting , severe headache, vision/memory problems, irritability, personality changes, loss of coordination, numbness in UEs, head/neck pain, difficulty swallowing.

Signs of infection:
Vomiting lethargy fever
Seizures and deterioration of physical and cognitive functioning

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6
Q

Muscular dystrophies/atrophy
what is it?
Prognosis?
common symptoms?

A

Muscular dystrophy/atrophy

what is it?
group of degenerative disorders resulting in mm weakness and decreased mass.

progress? varies from rapid/fatal/or stable

common symptoms? low tone, weakness, atrophy, abnormal movement patterns, delayed developmental milestones, potentially difficulty with oral motor feeding, spine/extremity deformities, difficulty breathing.

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7
Q

Types of muscular dystrophies: Duchenne’s
Characteristics-
Functional impairments-
Prognosis-

A

Types of muscular dystrophies: Duchenne’s

Characteristics-
*enlarged calf mm or thigh/forearm mm giving appearance of muscular/healthy child. *proximal joint weakness
*Trendelenburg gait
*Gower’s sign
weakness in all voluntary mm including heart and diaphragm

Functional impairments-

  • severe mobility impairment
  • frequent falls
  • difficulty getting up from floor level
  • respiratory problems, infections, cardiovascular complications
  • behavior and learning difficulties, delayed speech may occur.

Prognosis-
limited life expectancy to early 20’s

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8
Q

Types of muscular dystrophies: Becker’s
Characteristics-
Symptoms-
prognosis-

A

Types of muscular dystrophies: Becker’s

Characteristics- Similar to Duchenne’s but progress slower, less severe, more unpredictable

Symptoms- loss of motor function in hips, thighs, pelvis, and shoulders. enlarged calves, cardiac system may be involved

prognosis- survival can be until late adulthood especially if no cardiac involvement

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9
Q

Types of muscular dystrophies: Arthrogryposis multiplex congenita
Characteristics-
related problems-
prognosis-

A

Types of muscular dystrophies: Arthrogryposis multiplex congenita

Characteristics-

  • Presence of weakness, deformities, and associated joint contractures
  • Position of rest for the UE tends to be internal rotation of shoulder, elbow extension, and wrist flexion. LEs flexion/internal rotation of hips and club feet.

related problems-
* congenital heart defects, spinal defects, torticollis, and involvement of the diaphragm

prognosis- Can be stable, mildly progressive, or improve

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10
Q

Types of muscular dystrophies: Limb-girdle muscular dystrophy

characteristics

A

Types of muscular dystrophies: ​Limb-girdle muscular dystrophy

characteristics:
initially affects proximal mms of pelvis and shoulders then progresses slowly

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11
Q

Types of muscular dystrophies: Facioscapulohumeral muscular dystrophy

presentations
prognosis?

A

Types of muscular dystrophies: Facioscapulohumeral muscular dystrophy

presentations?

  • involves face, upper arms, and scapular region
  • causes masking
  • causes decreased face mobility
  • decreased ability to lift arms above shoulder.
  • progresses to weaken ab and hip mms.

prognosis? slow, rarely impacts cardiac/respiratory functioning, normal life expectancy

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12
Q

Types of muscular dystrophies: Spinal Muscular Atrophy

Presentations:

prognosis:
- Types (1-4)

A

Types of muscular dystrophies: Spinal Muscular Atrophy

Presentations:

  • Weakness of voluntary muscles of shoulders, hips, thighs and upper back resulting in spinal curvatures
  • Muscles for breathing and swallowing can be affected

prognosis:
The earlier onset the greater severity of symptoms.
Type 1: birth or infancy, known as werdnig-hoffman disease. Life expectancy approximately 2 years old
Type 2: children, 6 months to 3 years progresses rapidly, life expectancy early childhood.
Type 3: Older children, later onset/less severe
Type 4: adolescent or adult, later onset/less severe

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13
Q

Types of muscular dystrophies: Congenital Myasthenia Gravis

what is it?
Onset?

A

Types of muscular dystrophies: Congenital Myasthenia Gravis

what is it?
Disorder involving transmission of impulses in the neuromuscular junction.

Onset? near birth and more frequent in males

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14
Q

Types of muscular dystrophies: Charcot-Marie-Tooth disease

Characteristics
onset

A

Types of muscular dystrophies: Charcot-Marie-Tooth disease

Characteristics

  • involves the peripheral nerves.
  • marked by progressive weakness in the peroneal (fibular) and distal leg muscles.

onset
*Typically occurs in teenage years or earlier

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15
Q

Types of muscular dystrophies: Myopathies

Symptoms:
Prognosis:

A

Types of muscular dystrophies: Myopathies

Symptoms:

  • similar to dystrophies
  • Characterized by weakness of face, neck, and limbs.

Prognosis: progress slower, and have better prognosis than dystrophies

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16
Q

Progressive supranuclear palsy
Symptoms:
onset/prognosis:

A 
Progressive supranuclear palsy
Symptoms: 
loss of voluntary eye movements (reflexive remain),
 Bradykinesia, (slowness of movement)
 rigidity, 
axial dystonia, (abnormal tone of torso)
 pseudobulbar palsy, (a condition that affects your ability to control the muscles in your face like the jaw, tongue, throat etc.)
and dementia
Onset= middle adult life
prognosis= death approximately 15 years after onset
17
Q

Huntington’s Chorea
characterized by:
progression:

A

Huntington’s Chorea

characterized by: choreiform movements (jerking or writhing movements,), and progressive intellectual deterioration 
Psychiatric disturbances (personality change, manic-depressive symptoms, schizophreniform illness) may precede the onset of movement disorder.

progression: Signs and symptoms are progressive until end of life.

18
Q

Friedrich’s ataxia
(type of spinocerebellar degeneration)

progression
symptoms

A

Friedrich’s ataxia
Symptoms: the prototype of spinal ataxia

Progressive degeneration

Unsteady gait, UE ataxia, dysarthria
Tremor may be minor feature
Areflexia (the absence of deep tendon reflexes) and loss of large fiber sensory modalities (touch, vibration, and balance.)
As it progresses scoliosis and cardiomyopathy (difficulty pumping blood) are common

19
Q

Cerebellar cortical degeneration
(type of spinocerebellar degeneration)

Progression
symptoms

A 
Cerebellar symptoms 
-uncoordinated movement
-over/under reaching
-cant perform rapid alternating mm movements 
-hypotonia
-broken/not smooth movements and gestures
- weakened speech mm
with slurred slow speech
- involuntary rhythmic eye movements.
20
Q

Multiple systems degeneration
(type of spinocerebellar degeneration)

progression
symptoms

A

Multiple systems degeneration

progressive

  • spasticity
  • tremors/uncontrolled movement
  • sensory dysfunction
  • mm stiffness and overactive reflexes
  • slow difficult movement
  • autonomic dysfunction effect heart rate/BP/sweating etc.
21
Q

Amyotrophic Lateral Sclerosis (ALS)

Prognosis
symptoms
treatment

A

Amyotrophic Lateral Sclerosis (ALS)

Prognosis: progressive degeneration. death usually occurs 2-5 years after onset of symptoms.

symptoms:
- mm weakness, atrophy and fasciculations
treatment beginning distally and asymmetrically.
-cramps and fasciculations precede weakness. usually begins in hands.
- spasticity,
-hyperactive deep tendon reflexes
-difficult speech/swallow
-sensory, eyemovement, and urinary sphincters often stay intact.

Treatment: no medical treatment available for progression so treatment aims at secondary complications such as spasticity, aspiration, decubiti, contractures etc.

NBCOT Study Guide (7 decks)

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