Neurology: Spinal Cord Disease Flashcards
Describe Werdnig Hoffman Disease.
Spinal Muscular atrophy:
- degeneration of anterior horn due to chromosome 5q deletion preventing “survivor motor protein” from being synthesized.
- no UMN signs
Usually occurs in babies (floppy baby), weak intrauterine kicking, suckling, and respiratory failure
Describe Kugelberg Welander Disease.
Spinal Muscular atrophy:
- degeneration of anterior horn due to chromosome 5q deletion preventing “survivor motor protein” from being synthesized.
- no UMN signs
Oropharyngeal muscles spared, kids usually live longer that WHD patients.
Name two biochemical causes of Lou Gehrig Disease (amyotrophic lateral sclerosis)
- Gain of function mutation in superoxide dismutase
2. Decrease in VEGF function leading to spinal cord ischemia
Name two motor regions spared in ALS.
- Extraocular muscles
- Urinary sphincter muscles
!All sensory is spared!
What is bulbar palsy?
Brainstem palsy: affects talking, swallowing, breathing, etc.
How can ALS be differentiated from:
- Cervical spondylosis
- Syringomyelia
Both have sensory deficits, ALS does not
How is ALS diagnosed on EMG?
There are 4 axes measured on a full body EMG. Cranial, cervical, thoracic, and lumbar.
If a decreased conductance is detected in at least 3 axes, the EMG is positive for ALS.
What is the general prognosis for ALS.
Poor, patients usually die within 5 years from respiratory failure.
What is an Arnold-Chiari malformation.
Malformation in the cerebellum where the tonsil herniates thru the foramen magnum. This decrease in the space of the foramen can lead to syringomyelia.
Describe Subacute Combined Degeneration.
B12 deficiency leads to pernicious anemia which can affect both CNS and PNS.
The main lesion is demyelination in posterior columns.
Leads to UMN signs, ataxia, and somatosensory loss.
How can you diagnose and treat Subacute Combined Degeneration?
Check homocyteine and methylmalonic acid levels. Methylmalonic acid is a product that only accumulates in a B12 deficiency.
Treat with intramuscular B12 shots
Treatment for Arnold-Chiari malformation.
Surgical expansion of the foramen magnum
Which pregnant patients are at risk of having babies that develop spina bifida?
Those on anti-seizure medications which act as folic acid antagonists.
Also women on Vitamin A acne medication can cause this due to Vit. A toxicity.
What the hell is nevus flammeus?
A vascular anomaly consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discoloration of the skin. Sometimes a benign symptom of spina bifida
Describe Friedreich Ataxia.
Deficiency in the protein frataxin (protein involved in mitochondrial homeostasis) that leads to degeneration of the posterior funiculus, lateral cortical spinal tracts, spinocerebellar tracts, dorsal roots, AND clarke’s nucleus.
