/familial amyloid neuropathy

familial amyloid neuropathy

Rare Disease

MONDO:0007100

Also Known As

ATTRv amyloidosisCorino de Andrade's diseaseTTR amyloidosisamyloid neuropathies, familialamyloidosis, hereditary, transthyretin-relatedfamilial TTR-related amyloidosisfamilial amyloid neuropathyfamilial amyloid polyneuropathyfamilial transthyretin amyloidosisfamilial transthyretin-related amyloidosishATTRhereditary TTR amyloid polyneuropathyhereditary TTR amyloidosishereditary transthyretin amyloid polyneuropathyparamyloidosistransthyretin-related hereditary amyloidosishereditary amyloidosis, transthyretin-related

Definition

A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.