Hereditary Neuropathies


Hereditary Neuropathies
Hereditary Neuropathies are a group of inherited nervous system disorders, that affect the peripheral nervous system. These interfere with normal nerve function, whether motor or sensory. They affect the peripheral nerves, meaning the nerves beyond the brain and spinal cord.

The types are – Hereditary, motor, sensory neuropathy, and hereditary sensory neuropathy.

Hereditary neuropathies are passed on from parent to child. These are also called inherited neuropathies. Neuropathies can also be acquired. This type is caused by various other conditions, like diabetes, thyroid issues, or alcohol use. Idiopathic neuropathies have no apparent cause. Whether Hereditary or nonhereditary neuropathy, both have similar symptoms.


The symptoms of the condition can vary in severity and according to the type. The episode can last from several minutes to months.

These might include sensory symptoms like -

• Numbness, tingling, and muscle weakness

• Pain in the limbs

• There is severe pain in the legs and hands, (elbows and wrists)

• Loss of sensation in the hands, similar to carpel tunnel syndrome.

• Muscle weakness makes it difficult to lift the front part of the foot–foot drop or the wrist–wrist drop.

Most people may have mild symptoms and can fully recover from it. The condition is unlikely to lead to severe disability and is not life-threatening. But sometimes the affected nerve only partially heals, causing long-term nerve and muscle issues.

However, even if this happens, symptoms are usually mild and unlikely to lead to a disability.

Causes & Risks

What causes Hereditary Neuropathy?

• Hereditary neuropathies are passed on genetically. A family member, diagnosed with hereditary neuropathy is in itself considered a huge risk factor.

• Experts suggest that health conditions, like type 2 diabetes and obesity, tend to increase the risk for certain hereditary neuropathies. There is still a need to understand the link between health conditions and hereditary neuropathies.

• It's caused by mutations of the PMP22 gene, that affect the development of myelin sheath - a substance that protects the nerve cells. As the sheath is already weak, the slightest pressure, stretch, or repetitive movement on the nerve can lead to sections of the myelin being lost, leading to muscle weakness, called pressure palsies.

Test & Diagnosis

Hereditary neuropathies may appear at birth, in middle age, or later in life -

• They can vary among different family members, with some individuals having more severe symptoms than others.

• The hereditary neuropathies can be diagnosed with the help of Blood tests for genetic testing.

• Molecular genetic testing is now an integral part of the evaluation of patients with inherited neuropathies

• Neurological Examination.

• Blood Test is needed

• MRI Scans.

• Nerve Conduction Study.

• Electromyogram is advised

• A Skin Biopsy test may be performed


There are no standard treatments for ‘Hereditary Neuropathies –

• The treatment can relieve symptoms and provide support in life.

• The therapy includes physical treatment and if required, pain medication is also prescribed.

• Orthopedic surgery may be needed to correct severe foot or other skeletal deformities and stabilize the foot.

• Supportive care is crucial

• Bracing can help correct foot drop

• Physical therapy, to strengthen muscles, and occupational therapy are of utmost importance

• Vocational counseling may aid in preparing young patients to maintain vocational skills despite the progression of the disease.

Living With

Trying to live with hereditary neuropathies is very challenging and impacts daily life…

Hereditary neuropathies are a group of inherited disorders affecting the peripheral nerves, leading to problems with sensation, muscle control, and other functions.

Here's a list of what it may require :

Hereditary neuropathies can show symptoms such as numbness, tingling, pain, and muscle atrophy. These symptoms can affect mobility, coordination, and daily activities.

Individuals might experience difficulties with walking, balance, and tasks requiring manual dexterity, all depending on the severity and progression of the condition.

Sensory and motor issues impact various aspects of daily life - difficulties in buttoning clothes, handling utensils, writing, or performing other activities

Neuropathies can lead to muscle weakness and fatigue that need to be dealt with.


• Neuropathies can cause functional limitations due to sensory and motor symptoms.

• Over time, hereditary neuropathies can lead to muscle weakness and wasting (atrophy) due to nerve damage, impacting mobility and fine motor skills.

• Neuropathies are characterized by burning, stabbing, or shooting sensations, and can be a significant complication of hereditary neuropathies.

• Certain forms of hereditary neuropathies can cause problems with balance and coordination, increasing the risk of falls and related injuries.

• Hereditary neuropathies may affect the autonomic nervous system, leading to issues with blood pressure regulation, heart rate, sweating, or digestion.

• Long-standing neuropathies can lead to foot deformities like high arches or hammer toes, leading to foot ulcers or injuries that may not heal well.
Warning - BNC - Best Neuro Care
The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
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