hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare genetic disorder that affects the peripheral nerves, causing them to become increasingly sensitive to pressure, injury, and use [3]. This condition leads to recurrent episodes of numbness, tingling, and loss of muscle function (palsy) in one or multiple nerves [1][2][4].

The symptoms of HNPP can vary from person to person but may include:

• Partial hearing loss and facial numbness due to cranial nerve involvement
• Intolerable fatigue and pain
• Sensation loss, particularly in the hands and feet
• Numbness, tingling, and/or loss of muscle function (palsy) in affected nerves
• Pain in the limbs, especially the hands
• Carpal tunnel syndrome, impairing hand function

HNPP is a peripheral neuropathy, meaning it affects the nerves outside the brain and spinal cord [7]. It is an inherited condition, typically passed down from parents to their children [8][9].

In most cases, HNPP is triggered by minor physical activities that would be innocuous to healthy people, such as walking or lifting light objects [6]. The condition can also be caused by pressure on the nerves, which can lead to pain and numbness in the affected area.

Overall, HNPP is a rare but serious condition that requires proper diagnosis and treatment to manage its symptoms and prevent further nerve damage.

Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder that affects peripheral nerves, causing them to be highly sensitive to pressure. The symptoms of HNPP can vary in severity and may begin during adolescence or early adulthood, but can also develop anytime from childhood to late adulthood.

Common Symptoms:

• Recurrent acute sensory and motor neuropathy in a single or multiple nerves
• Non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy)
• Weakness—unable to move an entire limb
• Unable to use certain muscles of the arm (can't reach, wash hair, eat) or hand (difficulty gripping)
• Sensory loss over specific areas, such as the index finger
• Tingling sensations, numbness, pain, weakness, muscle atrophy, and even paralysis of the affected area

Pressure-Induced Symptoms:

• Symptoms can be triggered by pressure on the nerves, which can cause:
  • Foot drop
  • Hand numbness and weakness
  • Arm weakness
  • Sensory loss over specific areas

Other Affected Areas:

• The fingers, shoulders, hands, feet, and scalp can also be affected.

It's worth noting that symptoms of HNPP can come and go, making diagnosis challenging. However, with the right tests, such as electromyography, nerve conduction studies, and genetic testing, a proper diagnosis can be established [1][2][3][4][5][6][7][8][9][10][11].

References: [1] Symptoms vary in severity; many people never realize they have the disorder, while some people experience prolonged disability. (Search result 1) [2] The most common initial manifestation is the acute onset of a non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy) [Kumar et al 2002 ... (Search result 3) [3] Weakness—unable to move an entire limb · Unable to use certain muscles of the arm (can't reach, wash hair, eat) or hand (difficulty gripping ... (Search result 8) [4] The most common problem sites involve nerves in the wrists, elbows, and knees. The fingers, shoulders, hands, feet, and scalp can also be affected. Many people ... (Search result 9) [5] Symptoms vary in severity, and an episode can last from several minutes to months. HNPP is not life threatening and most people have mild symptoms. Many people fully recover after an episode and do ... (Search result 10) [6] The patient`s uncle also had a history of symptoms of paralysis. The patient also had a history of recurrent monoparesis and recovery ... (Search result 11) [7] Electromyography, nerve conduction studies , and genetic testing help establish the diagnosis. (Search result 12)

Hereditary neuropathy with liability to pressure palsies (HNPP) can be diagnosed through a combination of clinical evaluation, family history, and specific diagnostic tests.

Electromyogram/Nerve Conduction Study (EMG/NCS) is an important diagnostic tool for HNPP. This test shows changes in areas where peripheral nerves are exposed to pressure, which is a hallmark of the condition [2].

A genetic test can also be used to confirm the diagnosis of HNPP. This test looks for mutations in the PMP22 gene, which is associated with the condition [5]. Additionally, a Pmp22 (peripheral myelin protein 22) gene analysis may aid in the diagnosis of HNPP, particularly if there is a family history of the condition [7].

In some cases, an electrophysiologic testing, such as EMG/NCS, may be used to support the diagnosis of HNPP. This test can show evidence of recurrent focal mononeuropathies and other nerve abnormalities associated with the condition [6].

It's worth noting that a Recommended test for suspected hereditary neuropathy with liability to pressure palsies (HNPP) is typically an EMG/NCS, which is considered a first-tier test for suspected HNPP [4].

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare genetic disorder that affects the peripheral nerves, making them sensitive to pressure. While there is no cure for HNPP, various treatments can help manage symptoms and prevent further nerve damage.

Corticosteroid Therapy

According to search result [3], corticosteroid therapy may be beneficial in individuals with HNPP who have a protracted or incomplete course of recovery. This treatment involves administering corticosteroids to reduce inflammation and swelling around the affected nerves.

Intravenous Immunoglobulin (IV Ig)

A case report in search result [7] describes a patient with HNPP who responded well to IV Ig during acute attacks. IV Ig is a type of immunotherapy that involves infusing antibodies into the bloodstream to help reduce inflammation and promote nerve recovery.

Avoiding or Modifying Activities

Search results [5], [9], and [10] emphasize the importance of avoiding or modifying activities that cause symptoms in HNPP patients. This may include wearing wrist splints, elbow pads, or other protective gear to prevent pressure on sensitive nerves.

Other Treatments

While there is limited information available on specific drug treatments for HNPP, some studies suggest that corticosteroids and IV Ig may be beneficial in managing symptoms. However, more research is needed to fully understand the effectiveness of these treatments and to identify potential new therapies.

In summary, while there is no cure for hereditary neuropathy with liability to pressure palsies (HNPP), various treatments can help manage symptoms and prevent further nerve damage. These include corticosteroid therapy, IV Ig, avoiding or modifying activities that cause symptoms, and other supportive measures.

References:

[3] HS Heng · 2012 · Cited by 14 [7] ZH Liew · 2017 · Cited by 2 [5], [9], and [10] Various search results

Hereditary neuropathy with liability to pressure palsies (HNPP) is a condition that requires accurate differential diagnosis to rule out other conditions that may present similar symptoms.

Key Conditions to Consider:

• Compression-induced mononeuropathies: These are injuries to individual nerves caused by compression, which can mimic the symptoms of HNPP.
• Generalized polyneuropathies: This refers to a group of conditions that affect multiple nerves and can cause widespread numbness, tingling, and muscle weakness.

Other Conditions to Rule Out:

• Lacunar stroke
• Multiple sclerosis
• Spinal muscular atrophy
• Chronic inflammatory demyelinating polyneuropathy (CIDP)
• Idiopathic axonal neuropathy

Characteristics of HNPP:

• Inherited autosomal dominant disorder
• Episodic sensory or motor symptoms due to nerve injury from pressure or compression
• Numbness, tingling, and muscle weakness in the limbs

Differential Diagnosis Considerations:

• Physical examination findings showing previous nerve palsy (focal weakness, atrophy, or sensory loss)
• Family history of HNPP or similar conditions
• Presence of other systemic diseases, toxic exposures, medications, infections, or hereditary disorders that may contribute to peripheral neuropathy

References:

• [3] Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant, slowly progressive neuromuscular disorder.
• [4] Other supporting findings can be physical examination findings showing previous nerve palsy (i.e. focal weakness, atrophy or sensory loss), ...
• [5] Diagnosis Challenges · a lacunar stroke · multiple sclerosis · spinal muscular atrophy · chronic inflammatory demyelinating polyneuropathy (CIDP) · idiopathic axonal ...