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ADRENOMYODYSTROPHY: WHAT IS ADRENOMYODYSTROPHY?

Read about adrenomyodystrophy medical facts: what is the definition of adrenomyodystrophy, what are the signs and symptoms, prevalence, case study, and related adrenomyodystrophy diseases.

Definition: What is "Adrenomyodystrophy"?

ADRENOMYODYSTROPHY

Adrenomyodystrophy is a rare genetic disease which is often characterized by chief adrenal insufficiency, acute psychomotor retardation, dystrophic myopathy & an acutely swollen bladder which can result into death.

Symptoms & Signs

The most common symptoms of adrenomyodystrophy are chronic constipation; dystrophic myopathy; thriving failure; acute psychomotor retardation; & a bladder that is over swollen. What is often primarily addressed is the problem on psychomotor development. There can be physical therapies that can be done but these do not promise total recovery.

Prevalence

This disorder is listed among the categories of rare diseases by the Office of Rare Diseases (of the National Institutes of Health). It is listed as such because it affects only less than 200,000 of the population throughout the entire United States.

Case Study

There was a study that was done in 1982 wherein 2 brothers were the subjects. These two showed the usual symptoms of adrenomyodystrophy which also included additional symptoms such as megalocornia & liver fatty degeneration. Their pituitary had microadenomas which produced ACTH. The study featured the difference between the disorder & adrenoleukodystrophy & glycerol kinase deficiency.



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