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Fighting Diagnostic Odyssey in Rare Peripheral Neuropathies

Peripheral neuropathies are a group of disorders that affect the peripheral nerves, i.e. the nerves outside the brain and spinal cord. Peripheral neuropathies caused by a series of injuries or diseases that damage the peripheral nerves can lead to a variety of disabling and progressive symptoms mainly sensory, motor or dysautonomic. These may include balance problems, muscle weakness, increased fatigue and pain.

ERN EURO-NMD has produced a series of educational videos on rare peripheral neuropathies to raise awareness, primarily, among general practitioners; first line professionals who play a decisive role in patient care.


Rapid referral to a specialist in an expert centre will often reduce diagnosis wandering and, in some cases, enable appropriate and early treatment limiting the worsening of the disease and improving patients’ quality of life.

These videos are also directed towards patients and their representatives, with the aim of providing them with as much information, recommendations, and good practice as possible.

This work contains patient testimonials and explanations from clinicians’ experts in the field of rare peripheral neuropathies, who provide detailed information about the care and treatment options available to patients.


 



 

“Think rare”

In this first part, we provide an overview of rare peripheral neuropathies, explaining the two main categories of neuropathies: hereditary & acquired.

 

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“Suspecting a rare peripheral neuropathy”

The experts discuss sensory, autonomic and motor symptoms, and the causes and consequences these symptoms.

 

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“Charcot-Marie-Tooth disease”

In this third part, the experts focus on Charcot-Marie-Tooth disease, explaining the difference between Charcot disease, which refers to A.L.S. (Amyotrophic Lateral Sclerosis), and Charcot-Marie-Tooth disease, which affects the peripheral nerve and leads to progressive paralysis of the legs and hands.

 

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“CIDP (Chronic Inflammatory Demyelinating Polyneuropathy)”

In this fourth part, the participants introduce us to an overview of CIDP (Chronic Inflammatory Demyelinating Polyneuropathy) and Guillain-Barré syndrome. Experts give us an insight into typical clinical symptoms and the red flags.

 

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“Amyloidosis”

This 5th part is devoted to amyloid neuropathy. The focus will be on  AL amyloidosis (Amyloid light chain) and ATTR amyloidosis (Amyloid transthyretin protein or TRR protein).

 

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“Good practices”

In this last part, the experts and patients conclude these videos by emphasizing the need to always listen to the patient and ask the right questions to reduce the probability of a wrong diagnosis.

 

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