Chapter 7 diagnoses Flashcards
Spina bifida occulta:
- physical presentation
- Symptoms
- 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
Occulta spinal dysraphism:
- Physical presentation
- symptoms
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.
Spina Bifida Cystica :
2 types:
presentation:
Symptoms:
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
Tethered cord syndrome
what is it?
signs
symptoms
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
*Shunting Precautions
- symptoms of blocked shunt
- within 1st year
- 2nd year
- adolescence
- adults
*signs of infected shunt
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
Muscular dystrophies/atrophy
what is it?
Prognosis?
common symptoms?
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.
Types of muscular dystrophies: Duchenne’s
Characteristics-
Functional impairments-
Prognosis-
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
Types of muscular dystrophies: Becker’s
Characteristics-
Symptoms-
prognosis-
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
Types of muscular dystrophies: Arthrogryposis multiplex congenita
Characteristics-
related problems-
prognosis-
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
Types of muscular dystrophies: Limb-girdle muscular dystrophy
characteristics
Types of muscular dystrophies: Limb-girdle muscular dystrophy
characteristics:
initially affects proximal mms of pelvis and shoulders then progresses slowly
Types of muscular dystrophies: Facioscapulohumeral muscular dystrophy
presentations
prognosis?
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
Types of muscular dystrophies: Spinal Muscular Atrophy
Presentations:
prognosis:
- Types (1-4)
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
Types of muscular dystrophies: Congenital Myasthenia Gravis
what is it?
Onset?
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
Types of muscular dystrophies: Charcot-Marie-Tooth disease
Characteristics
onset
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
Types of muscular dystrophies: Myopathies
Symptoms:
Prognosis:
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
Progressive supranuclear palsy
Symptoms:
onset/prognosis:
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
Huntington’s Chorea
characterized by:
progression:
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.
Friedrich’s ataxia
(type of spinocerebellar degeneration)
progression
symptoms
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
Cerebellar cortical degeneration
(type of spinocerebellar degeneration)
Progression
symptoms
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.
Multiple systems degeneration
(type of spinocerebellar degeneration)
progression
symptoms
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.
Amyotrophic Lateral Sclerosis (ALS)
Prognosis
symptoms
treatment
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.
