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A 33-year-old member asked:

what is leber's congenital amaurosis? what causes it?

1 doctor answer1 doctor weighed in
Dr. Brad Goldenberg
Pediatrics 36 years experience
Rare retinal disease: This is a rare disorder of the retina that occurs a few times in 100,000 births, associated with abnormal eye movements , far sightedness, severe vision problems from birth, and light sensitivity. It's exact cause is unknown, and is one of the most common causes of blindness in children

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A 47-year-old member asked:

Is moyamoya a congenital disease?

2 doctor answers6 doctors weighed in
Dr. Ankush Bansal
Internal Medicine 17 years experience
Yes and no: In moyamoya, the inner layer (intima) of the internal carotid artery (ica) overgrows causing blockage of the lumen (opening) of the artery. The icas are two of the 4 major arteries supplying all of the brain. Collaterals form & look like smoke (moyamoya in japanese) on x-ray. Moyamoya can be congenital or acquired. There is also a possible hereditary component on chromosome 17.
Columbus, NE
A 31-year-old male asked:

I have congenital adrenal hypoplasia and the older I get the more tired I feel all the time. I am just curious if there is anything to help with this?

2 doctor answers7 doctors weighed in
Dr. Robert MULLER
Gynecology 40 years experience
Tiredness secondary: Would recommedn have your doctor refer you to a endocrinologist for evaluation and direct your question to some one totally qualified in that field.
Dr. Scott Beard
Dr. Scott Beard commented
Urogynecology 25 years experience
This is quite a complex problem. Of course fatigue is common as we age and metabolism slows, aerobic exercise and weight training are ways to "fight back" against his physiologic process of aging. if female, hormone replacement might be in order . but really a complex panel of hormonal evaluation and monitroing are important for this condition. Commonly weight is a big issue for CAH patients.
Jan 25, 2012
Dr. RADHA SYED commented
Gynecology 52 years experience
I was unclear if the patient said she had Congenital Adrenal HYPOplasia(not sure if this entity exists) or CAH(congenital adrenal HYPER plasia-which is more likely and is associated with Androgen excess,hirsutism,adrenogenital syndrome with male type of conversion of female genitalia.Fatigue is not one of the outstanding signs of the condition and I agree with Dr Beard about this issue.
Feb 6, 2012
A 24-year-old female asked:

Are people born with borderline pd? Is it hereditary? Or is it developed?

2 doctor answers6 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
Yes and No, or Both: Every baby is born with some temperament, some personality. Part of everybody's mental state is inherited. The rest of it develops with age (the development is guided by both inherited and environmental factors). Nobody is born with a blank mental state, that is capable of developing into all types of personalities. Some aspects of every person are already predistined, but nobody knows how much.
A 42-year-old member asked:

Is downs syndrome an inborn error of metabolism?

2 doctor answers5 doctors weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Extrachromosome: Down syndrome is due to one extra copy of chromosome number 21, trisomy 21. It is not due to a single gene defect affecting metabolism of one entity.
A 41-year-old member asked:

How is congenital myasthenia treated usually?

1 doctor answer2 doctors weighed in
Dr. William Goldie
Pediatric Neurology 48 years experience
Supportive care: The mother who has myasthenia gravis can pass over the Immune Globulin that blocks neuromuscular transmission. The baby is severely weak due to the mother's disease. Children usually do not express the symptoms of their disease until several years of age. Severe weakness at birth needs supportive care with tube feedings, pulmonary clearance, and range of motion to the limbs.

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