How are genetic tests used to diagnose demyelinating neuropathy?

How are genetic tests used to diagnose demyelinating neuropathy?

The exact testing strategy (i.e., testing for a single gene mutation, a panel of genetic tests, whole exome sequencing) depends on local cost and availability of different approaches. Thorough genetic testing will uncover a responsible gene mutation in up to 90% of patients with hereditary demyelinating neuropathies.

What kind of demyelinating polyneuropathy do you have?

1 Classical CIDP 2 CIDP with diabetes 3 CIDP/ monoclonal gammopathy of undetermined significance 4 Sensory CIDP 5 Multifocal motor neuropathy 6 Multifocal acquired demyelinating sensory and motor neuropathy ( Lewis-Sumner syndrome) 7 Multifocal acquired sensory and motor neuropathy 8 Distal acquired demyelinating sensory neuropathy

Can a blood test be used to diagnose neuropathy?

A blood test will likely be the first test your healthcare provider orders if they suspect neuropathy. You may have a vitamin deficiency, diabetes, or abnormal immune function that could damage your nerves. These conditions could be identified through a blood test, allowing your healthcare provider to make a better diagnosis.

How are NCV tests used to diagnose peripheral neuropathy?

Physiologic tests of nerve function Nerve conduction velocity (NCV) tests measure signal strength and speed along specific large motor and sensory nerves. They can reveal nerves and nerve types affected and whether symptoms are caused by degeneration of the myelin sheath or the axon.

Are there any diagnostic tests for chronic inflammatory demyelinating polyneuropathy?

Tests that can be of diagnostic help include nerve conduction testing and electromyography looking for very slow nerve conduction velocities, lumbar puncture looking for elevated spinal fluid protein without many inflammatory cells and MRI imaging of the nerve roots looking for enlargement and signs of inflammation.

Is there a blood test for peripheral neuropathy?

However, blood tests can identify illnesses that may mimic MS, such as another autoimmune condition or an infection. Nerve tests like electromyography (EMG) and/or nerve conduction velocity (NCV) studies are expected to show signs of peripheral neuropathy, 4  but they are not associated with any abnormalities in MS.

What are the symptoms of peripheral neuropathy demyelination?

The symptoms of demyelination correspond to the area of the nervous system affected. For example, peripheral neuropathy affects the hands and feet in what is often described as a “stocking glove” distribution.

Who is a board certified neurologist for demyelination?

Claudia Chaves, MD, is board-certified in cerebrovascular disease and neurology with a subspecialty certification in vascular neurology. Demyelination is loss of myelin, a type of fatty tissue that surrounds and protects nerves throughout the body.