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Flashcards in Spinal Cord Disease Deck (37)
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1

spinal muscular atrophy

- cause = degeneration of anterior horn cells b/c of a deletion on chrom 5q that encodes for "survival motor neuron"
- NO UMN signs
- more common types = werdnig-hoffman disease and kugelberg-welander disease
- usually seen in kids but can happen in adults

2

werdnig-hoffman disease

- evident in first few weeks of life
- commonly called floppy baby syndrome
- decreased intrauterine movement, progressive symmetric weakness, weak cry, swallowing difficulty, respiratory failure
- death in a few years

3

kugelberg-welander disease

- onset in childhood
- generalized weakness
- oropharyngeal mm. are spared
- longer life span than werdnig-hoffman babies

4

How do you dx werdnig-hoffman or kugelberg-welander? tx?

- H&P
- m. biopsy: fiber type grouping, group atrophy
- electromyography
- tx symptoms

5

amyotrophic lateral sclerosis: result of disease and possible causes

- degeneration of corticospinal tract and anterior horn cells
- most commonly sporadic but 10% are familial
- Chrom 20 autosomal dominant - VAPB vesicle trafficking protein could affect severity and form of ALS
- some cases caused by mutation in superoxide dismutase type 1 resulting in gain of function; others due to alteration in VEGF
- juvenile onset ALS = flaw in protein senataxin
- upiquilin 2 - gene UBQLN2; regulates protein degredation pathways; results in accumulation of proteins and cell death

6

ALS: risk factors, onset, what is spared

- risk factors = age, male sex, being thinner
- onset: mid to late adulthood
- may begin asymmetrically and there are no sensory findings
- spares extraocular and urinary sphincter mm. --> thought that the nucleus has a property protecting it

7

ALS possible presentations: LMN and UMN findings and symptoms associated w/ each; bulbar palsy; combo of all

- LMN: b/c of anterior horn being affected; causes m. atrophy/weakness, dysphagia, weight loss, cramps, fasciculations
- UMN: b/c of corticospinal tract degredation; causes hyperreflexia, spasticity, weakness, gait difficulty, Babinski sign
- Bulbar palsy: primarily affects cranial anterior horn cells; causes dysphagia, aspiration (pneumonia), hoarseness; pts w/ this presentation will die in a few years; can prolong life w/ ventilator, PEG tube

8

ddx for ALS

1. cervical spondylosis: but would also have numbness and no bulbar symptoms
2. syringomyelia
3. other myelopathies
4. Anti-GM1 antibody: causes LMN findings, rare but treatable

9

how do you make a dx of ALS?

- H&P
- EMG
- MRI of spine

10

ALS tx options

1. supportive: vaccinations, nutrition, etc.
2. symptomatic: spasticity meds like diazepam, baclofen, dantrolene
3. new medication = riluzole -- only FDA approved drug for ALS; prolong life by 10-20%
4. experimental: add rasagiline to riluzole; genetic: VEGF gene or its protein injected into pt

11

ALS prognosis

- pts dies from respiratory failure or infection
- dead w/in 5 years
- can prolong life w/ feeding tube and/or ventilator but it becomes a quality of life issue

12

syringomyelia

- chronic progressive tubular cavitation of spinal cord
- develops after trauma, hematomyelia, cystic degeneration of a glioma, ischemia
- associated w/ Arnold-Chiari malformation

13

hydromyelia

type of syringomyelia where there is a dilation of the central canal

14

syringobulbia

term for a syringomyelia that occurs in the brainstem

15

syringomyelia: clinical features

- most commonly in lower cervical cord
- dissociated sensory loss, cape distribution pain & temp loss, atrophy and weakness of hands, paraparesis, fasciculations, hyperreflexia, Babinski signs, bowel and bladder impairment, pain in neck and shoulders, scoliosis, Charcot joints

16

syringomyelia ddx

- ALS
- MS
- spinal cord tumor
- cervical spondylosis

17

how do you dx a syringomyelia?

- MRI is the best option
- myelogram if you can't get an MRI

18

syringomyelia tx?

- surgical
- radiation
- if it's small enough it may be asymptomatic and you can just watch them

19

subacute combined degeneration: causes

- result of a B12 deficiency; pernicious anemia = no intrinsic factor = no absorption of B12
- has CNS and PNS features
- myelin loss in posterior columns
- could have a normal CBC

20

subacute combined degeneration: clinical features

- sensory ataxia: cerebellum not getting enough feedback
- paresthesias in the feet
- impaired vibration and position sense
- spasticity, hyperreflexia, Babinski signs = UMN findings

21

subacute combined degeneration: diagnosis and treatment

- H&P
- B12 levels: homocysteine and methylmalonic acid levels
- B12 t be normalized w/ folic acid supplement
- CBC: megaloblastic, hyperchromic, and macrocytic changes
- Tx w/ IM B12: want to see the methylmalonic acid level come down; the shots will stop the process but not totally reverse the pathologic findings

22

Arnold-Chiari Malformation: what it is and possible causes

- congenital anomaly
- downward elongation of the hindbrain into cervical column
- possible causes = cord fixation at the bottom, developmental arrest, overgrowth of neural tube
- associated w/ spina bifida, hydrocephalus, syringomyelia

23

Arnold-Chiari Malformation: clinical features

- hydrocephalus in the first few years
- in adult onset: ataxia, weakness, nystagmus, myelopathic (UMN) signs

24

Arnold-Chiari Malformation: dx and tx

- H&P and MRI for dx
- tx = surgery

25

spina bifida: what it is, possible causes, high risk meds

- failure of closure of bony spine
- most common at lumbosacral region but can occur anywhere along spine or cranium
- genetic, environmental, and nutritional factors: folic acid, VANGL1 gene, MTHFR gene
- folic acid antagonists: trimethoprim, phenytoin, carbamazepine, phenobarbital, triamterene, primidone
- high risk if mom on seizure meds b/c they deplete folic acid

26

types of spina bifida

1. occulta: vertebral arch didn't fuse; characteristic patch of hair
2. meningocele - meninges herniated through
3. myelomeningiocele: meninges + cord
4. dermal sinus: pit in the skin down through the failed arch closure to the cord

27

spina bifida: clinical features

- asymptomatic
- dermatological features: overgrowth of hair, sinus, nevus flammeus, pit, lipoma
- neuro features: weakness, atrophy, gait disturbance, B&B symptoms, sensory loss, areflexia

28

spina bifida: dx and ts

- dx by H&P, MRI, CT scan, plain x-rays
- prevention tx: folic acid and vitamin A supplements for women of child bearing age
- surgical tx can be an option for the more severe types

29

Friedreich's Ataxia: what it is and causes

- very rare; familial and hereditary disease
- localized to chrom 9 & 11; deficiency of functional frataxin (involved in mitochondrial homeostasis)
- onset in the 1st-2nd decade
- degeneration of posterior funiculi, lateral CST, spinocerebellar tracts, dorsal roots, and Clarke's column

30

Friedreich's Ataxia: clinical features and tx

- areflexia
- ataxia
- loss of position sense
- nystagmus
- scoliosis
- pes cavus
- cardiomyopathy
- interesting clinical features = + Babinski and areflexia b/c they are UMN and LMN signs together
- symptomatic tx