Skip to main content

Table 2 Target diseases of RUDY JAPAN

From: The practice of active patient involvement in rare disease research using ICT: experiences and lessons from the RUDY JAPAN project

Skeletal muscle channelopathies: two categories of rare disease
- periodic paralyses: causes episodic muscle weakness [33, 34]
- non-dystrophic myotonias: causes muscle stiffness (myotonia) [35].
Hereditary angioedema (HAE): a rare disease that causes unpredictable swelling attacks in various parts of the body, including the upper airway, abdomen, and outer limbs (which involves multiple disciplines of medicine) [36].