PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder

MONDO:1060109

A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications.

Also known as: PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder, qualitative or quantitative defects of plectin

1 clinical trial for this condition and its sub-types, 0 tagged with PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder itself.

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↑ Hereditary disease (18235)

Sub-types of PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder

Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 trial
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
Epidermolysis bullosa simplex 5C, with pyloric atresia 0 trials
Epidermolysis bullosa simplex with nail dystrophy 0 trials

Including sub-types (1) Tagged with PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder (0)

Trials to join now! 1

Major study aims to better measure muscular dystrophy progression

Knowledge-focused Recruiting now

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:57 UTC

PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder

Where it sits in the disease tree

Major study aims to better measure muscular dystrophy progression