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Charcot-Marie-Tooth disease axonal type 2P

ICD-10 Codes

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Description

Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth disease that affects the peripheral nerves, causing progressive weakness and atrophy in the limbs. It is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs [5].

The symptoms of CMT2P may include mild loss of sensation, muscle weakness, and wasting, particularly in the hands and feet [1]. This type of CMT is caused by changes in the LRSAM1 gene, which can lead to defects in the axonal transport system, resulting in degeneration of the peripheral nerves [2].

CMT2P is classified as an axonal form of Charcot-Marie-Tooth disease, characterized by signs of axonal degeneration, normal or slightly reduced nerve conduction velocities, and absence of demyelination [7]. It is a rare form of CMT, caused by mutations in the LRSAM1 gene, with only a handful of reports in the literature [6].

The diagnosis of CMT2P is typically made through genetic testing, which can identify mutations in the LRSAM1 gene. There is currently no cure for CMT2P, but various treatments and therapies are available to manage its symptoms and slow disease progression.

Key characteristics:

  • Affects peripheral nerves
  • Causes progressive weakness and atrophy in limbs
  • Characterized by abnormalities in axon transport system
  • Caused by mutations in LRSAM1 gene
  • Rare form of CMT, with only a handful of reports in literature

References:

[1] - Symptoms may include mild loss of sensation, muscle weakness, and wasting, particularly in the hands and feet. [2] - Defects in axonal transport system can lead to degeneration of peripheral nerves. [5] - Abnormalities in fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. [6] - CMT2P is a rare form of CMT, caused by mutations in the LRSAM1 gene. [7] - Classified as an axonal form of Charcot-Marie-Tooth disease.

Additional Characteristics

  • Affects peripheral nerves
  • Causes progressive weakness and atrophy in limbs
  • Characterized by abnormalities in axon transport system
  • Caused by mutations in LRSAM1 gene
  • Rare form of CMT, with only a handful of reports in literature

Signs and Symptoms

Common Signs and Symptoms of Axonal Charcot-Marie-Tooth Disease Type 2P

Axonal Charcot-Marie-Tooth disease type 2P is a progressive neuropathy that affects the peripheral nerves, leading to muscle weakness, numbness, pain, and deformities. The clinical presentation of this condition can vary from person to person, but some common signs and symptoms include:

  • Gait anomalies: People with axonal CMT type 2P may experience difficulties walking or maintaining balance due to muscle weakness in the legs.
  • Variable autonomic disturbances: Autonomic nervous system dysfunction can lead to symptoms such as erectile dysfunction, urinary urgency, and changes in bowel habits [3].
  • Decreased sensitivity to touch, heat, and cold: Individuals with axonal CMT type 2P may experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs [4].
  • Distal weakness and muscle atrophy: Muscle weakness and wasting are common symptoms of axonal CMT type 2P, particularly in the distal muscles of the arms and legs.
  • Sensory loss: People with this condition may experience numbness or tingling sensations in their hands and feet due to sensory nerve damage.

It's essential to note that each individual may exhibit a unique combination of symptoms, and not everyone will experience all of these signs. If you're concerned about your symptoms or have been diagnosed with axonal CMT type 2P, consult with a healthcare professional for personalized guidance and support.

References:

[1] Context result 3: "Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated." [2] Context result 4: "Oct 1, 2018 — People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but..." [3] Context result 3 [4] Context result 4

Additional Symptoms

  • Sensory loss
  • Decreased sensitivity to touch, heat, and cold
  • Gait anomalies
  • Variable autonomic disturbances
  • Distal weakness and muscle atrophy

Diagnostic Tests

Diagnostic Tests for Charcot-Marie-Tooth Disease Axonal Type 2P

Charcot-Marie-Tooth (CMT) disease is a group of disorders that affect the peripheral nerves, leading to muscle weakness and sensory loss. The diagnosis of CMT disease axonal type 2P involves a combination of clinical evaluation, electrodiagnostic tests, and genetic testing.

Electrodiagnostic Tests

  • Electromyography (EMG): This test measures the electrical activity of muscles to assess their function and

Additional Diagnostic Tests

  • Electromyography (EMG)
  • Nerve Conduction Studies (NCS)

Treatment

Current Status of Drug Treatment for CMT2P

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and atrophy. Axonal CMT2P is a subtype of CMT characterized by axonal degeneration.

  • Limited Treatment Options: Currently, there are no FDA/EMA-approved drugs specifically for treating CMT2P (De Grado, 2024). Management still relies on rehabilitation, orthotics, and surgery (Dong, 2024).
  • Research in Progress: Researchers are exploring various therapeutic approaches to treat CMT. For example, inhibitors of SARM1, a protein involved in axonal degeneration, show promise for treating all CMT types, including CMT2P (Okamoto, 2023).
  • Neuropathic Pain Management: While not specific to CMT2P, neuropathic pain associated with the disease may respond to tricyclic antidepressants or antiepileptic drugs such as carbamazepine or gabapentin (De Grado, 2024).

Potential Future Directions

  • NMD Pharma's NMD670: A treatment candidate, NMD670, is being developed by NMD Pharma and has shown potential for improving muscle function in people living with CMT. It is currently in Phase 2 clinical trials (NMD Pharma, June 17, 2024).
  • Gene-based Therapies: Researchers are exploring gene-based therapeutic approaches to treat CMT. These therapies aim to address the underlying genetic causes of the disease.

References

[1] De Grado, A. (2024). Charcot-Marie-Tooth disease: Current status and future directions. [Context 6]

[2] Dong, H. (2024). Management of Charcot-Marie-Tooth disease. [Context 7]

[3] Okamoto, Y. (2023). Inhibitors of SARM1 for treating Charcot-Marie-Tooth disease. [Context 3]

[4] De Grado, A. (2024). Charcot-Marie-Tooth disease: Current status and future directions. [Context 6]

Note: The citations refer to the corresponding search results in the context provided.

Recommended Medications

  • Tricyclic antidepressants or antiepileptic drugs (carbamazepine or gabapentin)
  • NMD Pharma's NMD670
  • Inhibitors of SARM1
  • Gene-based Therapies

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

The differential diagnosis for Charcot-Marie-Tooth disease (CMT) axonal type 2P involves considering other conditions that may present with similar symptoms.

  • Dejerine-Sottas: This is a rare, inherited neuropathy characterized by severe nerve degeneration and muscle weakness. It can be distinguished from CMT2P by its more severe clinical presentation and earlier age of onset [12].
  • Gait disorder: Patients with CMT2P may experience gait disturbances due to muscle weakness and atrophy in the lower limbs. However, a gait disorder can also be caused by other conditions such as Parkinson's disease or cerebellar ataxia.
  • Weakness Legs & Arms: Muscle weakness is a hallmark of CMT2P, but it can also be seen in other neuromuscular disorders like muscular dystrophy or amyotrophic lateral sclerosis (ALS).
  • Charcot-Marie-Tooth disease, axonal, recessive with vocal cord paresis: This is another subtype of CMT that shares some clinical features with CMT2P. However, it is typically associated with a more severe phenotype and vocal cord paralysis [14].

To establish a diagnosis of CMT2P, clinicians should consider the patient's family history, age of onset, pattern of muscle weakness, and other relevant clinical findings.

References:

  • [12] - The incredible advances in molecular genetics have complicated the classification of these disorders.
  • [14] - Charcot-Marie-Tooth disease, axonal, recessive with vocal cord paresis Other.

Additional Differential Diagnoses

  • Dejerine-Sottas
  • Gait disorder
  • Weakness Legs & Arms
  • Charcot-Marie-Tooth disease, axonal, recessive with vocal cord paresis

Additional Information

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