Adrenomyodystrophy

MONDO:0010288

Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.

Also known as: adrenomyodystrophy

2 clinical trials for this condition and its sub-types, 0 tagged with Adrenomyodystrophy itself.

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Where it sits in the disease tree

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Part of

↑ Adrenal gland disorder (352)

Including sub-types (2) Tagged with Adrenomyodystrophy (0)

Trials to join now! 1 Not yet recruiting 1

New imaging tracer could shed light on adrenal cholesterol

Knowledge-focused Recruiting now

This study tests a special radioactive tracer called [18F]FNP-59 to see if it can safely and clearly show cholesterol activity in the adrenal gland using PET scans. About 24 people will take part, including healthy volunteers and those with known adrenal problems. The goal is to …

Early phase 1 • Sponsor: Benjamin Viglianti • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:02 UTC

Adrenomyodystrophy

Where it sits in the disease tree

New imaging tracer could shed light on adrenal cholesterol