Conditions / Cardiovascular
hereditary systemic amyloidosis 1
info · Cardiovascular · ICD-10: E85.82
An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in
An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
Signs and symptoms
- Amyloid deposition
- Increased CSF protein concentration
- Peripheral axonal neuropathy
- Hearing impairment
- Seizure
- Ataxia
- Nystagmus
- Amyloid deposition in the vitreous humor
- Muscle weakness
- Constipation
Also known as: ATTR amyloidosis; ATTRm amyloidosis; Amyloidosis, hereditary, transthyretin-related; Corino de Andrade's disease; Familial transthyretin amyloidosis