Neuropathy can be both acquired and inherited. While the majority of cases in the United Kingdom are acquired, meaning they develop during a person life due to factors like diabetes, vitamin deficiencies, or toxins, there is a significant group of neuropathies that are purely hereditary. These are caused by specific genetic mutations passed down from parents to their children. In the UK, inherited neuropathies affect approximately 1 in 2,500 people, with Charcot Marie Tooth disease being the most common type.
Hereditary neuropathies typically involve slow, progressive damage to the peripheral nerves over many years. Because these conditions are encoded in the DNA, they often appear in childhood or early adulthood, although some variants may not show symptoms until much later. This article explores the different types of inherited neuropathy, the various ways they are passed through families, and the diagnostic pathway within the NHS.
What We Will Discuss In This Article
- Primary Hereditary Types: Charcot Marie Tooth and HNPP
- Inheritance Patterns: Autosomal dominant, recessive, and X linked
- The Role of Genetics in Acquired Neuropathy: Susceptibility factors
- Diagnostic Pathway: How the NHS tests for genetic nerve disorders
- Living with Hereditary Neuropathy: Management and genetic counselling
- Emergency Guidance: Identifying acute neurological changes
Primary Types of Hereditary Neuropathy
Hereditary neuropathies are a group of disorders that primarily affect the structure or function of the peripheral nerves.
- Charcot Marie Tooth Disease: This is the umbrella term for the most common inherited nerve disorders. It is divided into types based on whether the damage affects the protective myelin sheath or the axon itself. It often causes high foot arches, foot drop, and muscle wasting in the lower legs.
- Hereditary Neuropathy with liability to Pressure Palsies: People with this condition are hypersensitive to physical pressure or minor trauma on their nerves. Simple activities like crossing the legs or leaning on an elbow can cause temporary numbness or muscle weakness that lasts for days or weeks.
- Hereditary Sensory and Autonomic Neuropathy: These rare types primarily affect the nerves responsible for pain and temperature sensation, or the autonomic nerves that control involuntary functions like sweating and blood pressure.
How Neuropathy is Inherited
- Autosomal Dominant: This is the most common pattern. A child only needs to inherit one faulty gene from one parent to develop the condition. If a parent has the gene, there is a 50 percent chance it will be passed to each child.
- Autosomal Recessive: A child must inherit two copies of the faulty gene, one from each parent, to develop the condition. Parents are typically carriers and show no symptoms themselves.
- X linked Inheritance: The faulty gene is located on the X chromosome. This often results in more severe symptoms in males, while females who have two X chromosomes may be carriers with mild or no symptoms.
Genetics and Acquired Neuropathy
It is important to note that even for common acquired neuropathies, genetics can play a role. For example, in diabetic neuropathy, research suggests that certain genetic variants may make some individuals more susceptible to nerve damage than others, even with similar blood sugar levels. While the neuropathy itself is not inherited, the genetic vulnerability to it can be.
The UK Diagnostic Pathway
If a hereditary neuropathy is suspected, the NHS follows a structured diagnostic process:
- Clinical Assessment: A neurologist evaluates muscle strength, reflexes, and foot structure, looking for high arches or hammertoes.
- Nerve Conduction Studies: These measure how fast electrical signals travel through the nerves, helping to distinguish between myelin and axon damage.
- Genetic Testing: In the UK, clinicians use the National Genomic Test Directory. Common tests include specific panels that look for PMP22 gene variants related to Charcot Marie Tooth and pressure palsies.
- Genetic Counselling: Families are offered counselling to discuss the implications of a diagnosis for other family members and future children.
Emergency Guidance
While hereditary neuropathies are typically slow moving, certain symptoms require urgent medical review. Seek emergency care immediately if you experience:
- Sudden and rapid onset of weakness or paralysis that progresses over hours or days
- Acute difficulty breathing or swallowing
- A sudden, severe loss of sensation in a limb following a minor injury
- Loss of bladder or bowel control accompanied by new weakness in the legs
- Signs of a severe infection such as fever or spreading redness in a foot wound you cannot feel
In these situations, call 999 or attend your nearest Accident and Emergency department immediately.
To Summarise
Neuropathy can be inherited, and for conditions like Charcot Marie Tooth, the genetic cause is the primary driver of the disease. These disorders are passed through families via various inheritance patterns and are characterized by a gradual decline in nerve function. However, the majority of neuropathy cases remain acquired. For those with a family history of nerve issues, the UK provides specialized genomic testing and neurological care to identify specific mutations and provide targeted management. Early diagnosis through the NHS pathway allows for better planning, physiotherapy, and support for long term mobility.
Can I have a hereditary neuropathy if my parents are healthy?
Yes. This can happen in autosomal recessive inheritance where both parents are healthy carriers or if a new genetic mutation occurred for the first time in you.
Is there a cure for hereditary neuropathy?
Currently, there is no cure that can fix the underlying genetic fault. However, many symptoms are highly manageable with physiotherapy, orthotics such as leg braces, and specialized pain management.
Does Charcot Marie Tooth affect life expectancy?
Most types do not affect life expectancy. People with the condition usually lead full and active lives, although they may face mobility challenges as they age.
Should my children be tested?
This is a personal decision that should be discussed with a genetic counsellor. In the UK, testing for children is generally only recommended if it will change their immediate medical management or if they are showing symptoms.
Authority Snapshot
This article was reviewed by Dr. Rebecca Fernandez, a UK trained physician with an MBBS and extensive experience in internal medicine, surgery, and emergency care. Dr. Fernandez has managed critically ill patients and stabilized acute trauma cases, providing her with a deep understanding of the physiological monitoring and diagnostic rigor required for complex neurological conditions. Her background in evidence based psychiatry and digital health ensures a holistic perspective on supporting the mental well being and physical health of families navigating hereditary conditions.
