jean robert
Forum Guru
Topics: 162
Posts: 669
|
A 15 y.o. caucassian male preents to your office with gait instability and frequent falls.PE reveals kyphoscoliosis,pes cavus and lower extremity ataxia.Position and joint sensation are also impaired.If the symptoms described are from an inherited disease, this patient is most likely to die of which of the following?
a.-Liver failure
b.-Intracranial Bleeding
c.-Renal Disease
d.-Cardiomyopathy
e.-Aortic dissection
f.-Brain tumor
___________________
Great works are performed not by strength, but by perseverance.
|
| me007
Forum Guru
Topics: 72
Posts: 803
|
d.
|
| new_n_lost
Politically InCorrect
Topics: 653
Posts: 6,086
|
d.-Cardiomyopathy >>> Friedreich Ataxia
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| me007
Forum Guru
Topics: 72
Posts: 803
|
i remember q - what vitamin deficiency will mimic freidreich's ataxia?
|
| new_n_lost
Politically InCorrect
Topics: 653
Posts: 6,086
|
Vit B6
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| me007
Forum Guru
Topics: 72
Posts: 803
|
|
| peraspera
Forum Elite
Topics: 38
Posts: 233
|
Vit E
|
| new_n_lost
Politically InCorrect
Topics: 653
Posts: 6,086
|
Well i was confuseed bw Vit B6 and B12 then it must be B12
if not then do tell me thx
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| peraspera
Forum Elite
Topics: 38
Posts: 233
|
Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms are much like those of Friedreich ataxia and is caused by mutations in the gene for a-tocopherol transfer protein.
|
| arlete
Intern in 2009!!!!!
Topics: 30
Posts: 2,241
|
B1
___________________
When men make the rules, God decides the exceptions.
|
| me007
Forum Guru
Topics: 72
Posts: 803
|
vit E correct.
don't ask me to explain, too vague
B12 very similar, but it is not,
fridreich's ataxia - similar to vit E def, (q was in uw)
|
| Mikeland
Forum Senior
Topics: 24
Posts: 109
|
C- Oligohydram...caused by Renal failure intrauterine..
|
| jean robert
Forum Guru
Topics: 162
Posts: 669
|
D (cardiomyopathy) is the correct answer.
Guys, Cardiomyopathy and Bulbar Dysfunction ar th most common causes of death in patient with FRIEDREICH ATAXIA.
Friedreich Ataxia is an autosoml recessive condition.The mutated gene on chromosome 9 has an increased number of the trinucleotide repeats(GAA). The posterior columns and spinocerebellar tracts of the spinal cord show degeneration; and loss of the larger sensory cells of the dorsal root ganglia is also seen.
The following symptoms are associated with the disease:
1.-Progresive ATAXIA of all 4 limbs.
2.-Hypertrophic cardiomyopathy develops in more than 50%. It can lead to cardiac arrhytmia and CHF.
3.-Kyphoscoliosis, pes cavus and hammertoes.
4.-Diabetes Mellitus
___________________
Great works are performed not by strength, but by perseverance.
|
|
| |
| | | | | | | | | | | | | |
