Clinical suspicion for<unk>  is raised on the basis of a family history of neuropathy and physical exam showing signs of neuropathy. Diagnosis can be made using genetic testing to identify mutations in the TTR gene, but may include other corroborative investigation. Nerve conduction testing typically shows an axonal polyneuropathy, with sensory involvement greater than motor. Superimposed mononeuropathies may also be evident, such as a median mononeuropathy at the wrist (carpal tunnel syndrome). Electromyography (EMG) may show evidence of chronic denervation and reinnervation. Autonomic testing, including quantitative sweat testing, can reveal involvement of the autonomic nervous system. Occasionally, biopsy of skin, nerve, or muscle may be performed, which can show signs of denervation and<unk>  deposition with response to anti-TTR antibodies. Additional testing should be performed to identify involvement of the heart or kidneys. Sudomotor function through electrochemical skin conductance may provide a measure of subclinical autonomic involvement.
Familial amyloid polyneuropathy
Familial amyloid neuropathy
MGUS polyneuropathy
Distal hereditary motor neuropathy type V
Muscular dystrophy
Charcot–Marie–Tooth disease
Hereditary sensory and autonomic neuropathy type I
Hereditary inclusion body myopathy