HPS5

Hereditary Progressive Polyneuropathy
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Muscle weakness, sensory loss, atrophy
Complications	N/A
Onset	Variable
Duration	Chronic
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, physical therapy
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Hereditary Progressive Polyneuropathy (HPP) is a group of neurological disorders characterized by progressive damage to the peripheral nerves. These conditions are typically inherited and result in a gradual loss of motor and sensory function.

Overview

Hereditary Progressive Polyneuropathy encompasses a variety of genetic disorders that affect the peripheral nervous system. The peripheral nerves are responsible for transmitting signals between the central nervous system and the rest of the body. Damage to these nerves can lead to symptoms such as muscle weakness, sensory loss, and atrophy.

Etiology

HPP is caused by genetic mutations that affect the structure and function of peripheral nerves. These mutations can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The specific genes involved vary depending on the type of HPP.

Clinical Presentation

Patients with HPP typically present with:

• Progressive muscle weakness
• Loss of sensation in the extremities
• Muscle atrophy
• Decreased reflexes

The onset and severity of symptoms can vary widely among individuals, even within the same family.

Diagnosis

Diagnosis of HPP involves a combination of clinical evaluation, family history, and genetic testing. Electromyography (EMG) and nerve conduction studies may be used to assess the extent of nerve damage.

Management

There is currently no cure for HPP. Management focuses on supportive care and symptomatic treatment. This may include:

• Physical therapy to maintain muscle strength and mobility
• Occupational therapy to assist with daily activities
• Pain management

Prognosis

The prognosis for individuals with HPP varies depending on the specific type and severity of the condition. Some individuals may experience a slow progression of symptoms, while others may have a more rapid decline.

Research Directions

Ongoing research is focused on identifying the genetic mutations responsible for HPP and developing targeted therapies to slow or halt disease progression.

Also see

• Peripheral neuropathy
• Charcot-Marie-Tooth disease
• Genetic disorders
• Neuromuscular disease

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WikiMD neurology

External links

• Comprehensive information from the National Institute of health.
  

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