Hereditary neuropathy with liability to pressure palsy: Difference between revisions
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[[File:Myelinated_neuron.jpg|Myelinated neuron|thumb]] [[File:AFO_Ankle_Foot_Orthosis_Orthotic_Brace.JPG|AFO Ankle Foot Orthosis Orthotic Brace|thumb | {{SI}} | ||
{{Infobox medical condition | |||
| name = Hereditary neuropathy with liability to pressure palsy | |||
| image = [[File:Nerve.nida.jpg|250px]] | |||
| caption = Nerve structure | |||
| width = | |||
| alt = | |||
| synonyms = HNPP, [[Tomaculous neuropathy]] | |||
| pronounce = | |||
| specialty = [[Neurology]] | |||
| symptoms = Recurrent [[peripheral neuropathy]], [[muscle weakness]], [[numbness]] | |||
| onset = Usually in [[adolescence]] or [[early adulthood]] | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] in the [[PMP22]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[nerve conduction study]] | |||
| differential = [[Carpal tunnel syndrome]], [[ulnar neuropathy]] | |||
| prevention = Avoidance of repetitive pressure on nerves | |||
| treatment = [[Physical therapy]], [[occupational therapy]], [[pain management]] | |||
| medication = [[Analgesics]], [[anti-inflammatory drugs]] | |||
| prognosis = Generally good with management | |||
| frequency = 1 in 50,000 | |||
| deaths = Rarely life-threatening | |||
}} | |||
[[File:Myelinated_neuron.jpg|Myelinated neuron|left|thumb]] [[File:AFO_Ankle_Foot_Orthosis_Orthotic_Brace.JPG|AFO Ankle Foot Orthosis Orthotic Brace|left|thumb]] '''Hereditary Neuropathy with Liability to Pressure Palsies''' ('''HNPP''') is a [[genetic disorder]] that affects the [[peripheral nerves]]. It is characterized by recurrent episodes of [[nerve compression]] that lead to numbness, weakness, and sometimes pain in the affected areas. HNPP is caused by a mutation in the [[PMP22]] gene, which plays a crucial role in the structure and function of the peripheral nerves. | |||
== Causes and Genetics == | == Causes and Genetics == | ||
HNPP is an inherited condition that follows an [[autosomal dominant]] pattern. This means that a mutation in just one of the two copies of the PMP22 gene can cause the disorder. The PMP22 gene is located on [[chromosome 17]] and is involved in the production of a protein that is essential for the myelin sheath, a protective covering that surrounds nerve fibers. In HNPP, there is typically a deletion of one copy of the PMP22 gene, leading to reduced levels of PMP22 protein. This reduction disrupts the normal function of the peripheral nerves, making them more susceptible to pressure and compression. | HNPP is an inherited condition that follows an [[autosomal dominant]] pattern. This means that a mutation in just one of the two copies of the PMP22 gene can cause the disorder. The PMP22 gene is located on [[chromosome 17]] and is involved in the production of a protein that is essential for the myelin sheath, a protective covering that surrounds nerve fibers. In HNPP, there is typically a deletion of one copy of the PMP22 gene, leading to reduced levels of PMP22 protein. This reduction disrupts the normal function of the peripheral nerves, making them more susceptible to pressure and compression. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of HNPP vary widely among individuals but commonly include: | The symptoms of HNPP vary widely among individuals but commonly include: | ||
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* Sensory loss in the affected limbs | * Sensory loss in the affected limbs | ||
* Muscle wasting in severe cases | * Muscle wasting in severe cases | ||
Symptoms are often triggered by minor traumas or pressure on the nerves, such as crossing one's legs, leaning on an elbow, or wearing tight-fitting clothing. | Symptoms are often triggered by minor traumas or pressure on the nerves, such as crossing one's legs, leaning on an elbow, or wearing tight-fitting clothing. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of HNPP involves a combination of clinical evaluation, family history, and genetic testing. [[Electromyography]] (EMG) and nerve conduction studies can help assess the extent of nerve damage and identify characteristic patterns associated with the disorder. Genetic testing is used to confirm the diagnosis by detecting the deletion or mutation in the PMP22 gene. | Diagnosis of HNPP involves a combination of clinical evaluation, family history, and genetic testing. [[Electromyography]] (EMG) and nerve conduction studies can help assess the extent of nerve damage and identify characteristic patterns associated with the disorder. Genetic testing is used to confirm the diagnosis by detecting the deletion or mutation in the PMP22 gene. | ||
== Treatment and Management == | == Treatment and Management == | ||
There is no cure for HNPP, but the condition can be managed with lifestyle adjustments and supportive care. Treatment strategies focus on avoiding activities that can trigger symptoms, using protective padding to prevent nerve compression, and physical therapy to strengthen affected muscles and maintain mobility. In some cases, pain management may be necessary to address discomfort associated with nerve damage. | There is no cure for HNPP, but the condition can be managed with lifestyle adjustments and supportive care. Treatment strategies focus on avoiding activities that can trigger symptoms, using protective padding to prevent nerve compression, and physical therapy to strengthen affected muscles and maintain mobility. In some cases, pain management may be necessary to address discomfort associated with nerve damage. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with HNPP is generally good, as the condition tends to be slowly progressive and does not typically affect life expectancy. However, the severity of symptoms and the impact on quality of life can vary. With appropriate management, most people with HNPP can lead active, normal lives. | The prognosis for individuals with HNPP is generally good, as the condition tends to be slowly progressive and does not typically affect life expectancy. However, the severity of symptoms and the impact on quality of life can vary. With appropriate management, most people with HNPP can lead active, normal lives. | ||
== See Also == | == See Also == | ||
* [[Peripheral Neuropathy]] | * [[Peripheral Neuropathy]] | ||
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* [[Genetic Disorders]] | * [[Genetic Disorders]] | ||
* [[Nerve Compression Syndrome]] | * [[Nerve Compression Syndrome]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Peripheral nervous system disorders]] | [[Category:Peripheral nervous system disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 04:34, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Hereditary neuropathy with liability to pressure palsy | |
|---|---|
| |
| Synonyms | HNPP, Tomaculous neuropathy |
| Pronounce | |
| Specialty | Neurology |
| Symptoms | Recurrent peripheral neuropathy, muscle weakness, numbness |
| Complications | N/A |
| Onset | Usually in adolescence or early adulthood |
| Duration | |
| Types | |
| Causes | Genetic mutation in the PMP22 gene |
| Risks | |
| Diagnosis | Genetic testing, nerve conduction study |
| Differential diagnosis | Carpal tunnel syndrome, ulnar neuropathy |
| Prevention | Avoidance of repetitive pressure on nerves |
| Treatment | Physical therapy, occupational therapy, pain management |
| Medication | Analgesics, anti-inflammatory drugs |
| Prognosis | Generally good with management |
| Frequency | 1 in 50,000 |
| Deaths | Rarely life-threatening |
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is a genetic disorder that affects the peripheral nerves. It is characterized by recurrent episodes of nerve compression that lead to numbness, weakness, and sometimes pain in the affected areas. HNPP is caused by a mutation in the PMP22 gene, which plays a crucial role in the structure and function of the peripheral nerves.
Causes and Genetics[edit]
HNPP is an inherited condition that follows an autosomal dominant pattern. This means that a mutation in just one of the two copies of the PMP22 gene can cause the disorder. The PMP22 gene is located on chromosome 17 and is involved in the production of a protein that is essential for the myelin sheath, a protective covering that surrounds nerve fibers. In HNPP, there is typically a deletion of one copy of the PMP22 gene, leading to reduced levels of PMP22 protein. This reduction disrupts the normal function of the peripheral nerves, making them more susceptible to pressure and compression.
Symptoms[edit]
The symptoms of HNPP vary widely among individuals but commonly include:
- Temporary numbness, tingling, or loss of muscle function in the affected area
- Episodes of muscle weakness or paralysis that can last from minutes to several months
- Sensory loss in the affected limbs
- Muscle wasting in severe cases
Symptoms are often triggered by minor traumas or pressure on the nerves, such as crossing one's legs, leaning on an elbow, or wearing tight-fitting clothing.
Diagnosis[edit]
Diagnosis of HNPP involves a combination of clinical evaluation, family history, and genetic testing. Electromyography (EMG) and nerve conduction studies can help assess the extent of nerve damage and identify characteristic patterns associated with the disorder. Genetic testing is used to confirm the diagnosis by detecting the deletion or mutation in the PMP22 gene.
Treatment and Management[edit]
There is no cure for HNPP, but the condition can be managed with lifestyle adjustments and supportive care. Treatment strategies focus on avoiding activities that can trigger symptoms, using protective padding to prevent nerve compression, and physical therapy to strengthen affected muscles and maintain mobility. In some cases, pain management may be necessary to address discomfort associated with nerve damage.
Prognosis[edit]
The prognosis for individuals with HNPP is generally good, as the condition tends to be slowly progressive and does not typically affect life expectancy. However, the severity of symptoms and the impact on quality of life can vary. With appropriate management, most people with HNPP can lead active, normal lives.
See Also[edit]
