EMILIN-1-related connective tissue disease

Definition

A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.

Disease data

Classification

Disease

ORPHA code

485418

OMIM code

ICD10 code

G60.8

ICD11 code

*Soruce