familial amyloid neuropathy
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.
MONDO:0018634
hereditary amyloidosis
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
ATTRv amyloidosis
exact
amyloid neuropathies, familial
exact
familial TTR-related amyloidosis
exact
familial amyloid neuropathy
exact
familial amyloid polyneuropathy
exact
familial transthyretin-related amyloidosis
exact
hATTR
exact
hereditary TTR amyloid polyneuropathy
exact
hereditary TTR amyloidosis
exact
hereditary transthyretin amyloid polyneuropathy
exact
paramyloidosis
exact
SPCC285.04