Muscular dystrophy, Ullrich congenital
A disorder evident at birth characterized by muscle weakness, contractures of multiple joints, and hyperextensibility (looseness) of joints, particularly distal joints (well away from the trunk).
The muscle weakness progresses slowly and ranges from mild to severe.
The disease is inherited as an autosomal recessive trait and is associated with mutations in several genes, including COL6A2 and COL6A3 on chromosome 2q37, adversely affecting the synthesis (production) of collagen VI.
The disease was first described as 'congenital atonic-sclerotic muscular dystrophy,' by Otto Ullrich in 1930