Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding CMT2K is limited primarily due to its extreme rarity, with fewer than 1 in 1,000,000 individuals affected. This low prevalence restricts the ability to conduct large-scale clinical studies, which are essential for understanding the full spectrum of the disease. Additionally, the genetic basis of CMT2K remains unidentified, complicating efforts to develop targeted therapies and comprehensive management strategies.
Patients with CMT2K typically experience a variety of symptoms that can impact mobility and daily life. Common features include gait disturbances and distal muscle weakness, which can lead to difficulty walking. Sensory impairments, such as decreased sensation in the hands and feet, are also prevalent. Additionally, muscle atrophy, particularly in the hands and distal limbs, may occur, affecting overall strength and function. These symptoms can vary in severity and may lead to arrhythmias in some cases.
To navigate your care for CMT2K, seek a neurologist with expertise in hereditary neuropathies, as they will be familiar with the nuances of this condition. You may also consider reaching out to organizations such as the National Organization for Rare Disorders (NORD) at rarediseases.org for additional resources and support. Participating in clinical trials could be beneficial, so inquire about any ongoing studies that you might qualify for. Genetic counseling may also be valuable, especially if there is a suspicion of hereditary factors influencing your condition.
Currently, there are no orphan drug designations for CMT2K, but there is one active clinical trial that may provide insights into potential treatments or management strategies. For more information on this trial, you can visit ClinicalTrials.gov and search for "autosomal dominant Charcot-Marie-Tooth disease type 2K". Participation in clinical trials may offer access to novel therapies and contribute to the broader understanding of this condition.
Actionable guidance for navigating care for autosomal dominant Charcot-Marie-Tooth disease type 2K
To navigate your care for CMT2K, seek a neurologist with expertise in hereditary neuropathies, as they will be familiar with the nuances of this condition. You may also consider reaching out to organizations such as the National Organization for Rare Disorders (NORD) at rarediseases.org for additional resources and support. Participating in clinical trials could be beneficial, so inquire about any ongoing studies that you might qualify for. Genetic counseling may also be valuable, especially if there is a suspicion of hereditary factors influencing your condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding CMT2K is limited primarily due to its extreme rarity, with fewer than 1 in 1,000,000 individuals affected. This low prevalence restricts the ability to conduct large-scale clinical studies, which are essential for understanding the full spectrum of the disease. Additionally, the genetic basis of CMT2K remains unidentified, complicating efforts to develop targeted therapies and comprehensive management strategies.
Patients with CMT2K typically experience a variety of symptoms that can impact mobility and daily life. Common features include gait disturbances and distal muscle weakness, which can lead to difficulty walking. Sensory impairments, such as decreased sensation in the hands and feet, are also prevalent. Additionally, muscle atrophy, particularly in the hands and distal limbs, may occur, affecting overall strength and function. These symptoms can vary in severity and may lead to arrhythmias in some cases.
To navigate your care for CMT2K, seek a neurologist with expertise in hereditary neuropathies, as they will be familiar with the nuances of this condition. You may also consider reaching out to organizations such as the National Organization for Rare Disorders (NORD) at rarediseases.org for additional resources and support. Participating in clinical trials could be beneficial, so inquire about any ongoing studies that you might qualify for. Genetic counseling may also be valuable, especially if there is a suspicion of hereditary factors influencing your condition.
Currently, there are no orphan drug designations for CMT2K, but there is one active clinical trial that may provide insights into potential treatments or management strategies. For more information on this trial, you can visit ClinicalTrials.gov and search for "autosomal dominant Charcot-Marie-Tooth disease type 2K". Participation in clinical trials may offer access to novel therapies and contribute to the broader understanding of this condition.
Actionable guidance for navigating care for autosomal dominant Charcot-Marie-Tooth disease type 2K
To navigate your care for CMT2K, seek a neurologist with expertise in hereditary neuropathies, as they will be familiar with the nuances of this condition. You may also consider reaching out to organizations such as the National Organization for Rare Disorders (NORD) at rarediseases.org for additional resources and support. Participating in clinical trials could be beneficial, so inquire about any ongoing studies that you might qualify for. Genetic counseling may also be valuable, especially if there is a suspicion of hereditary factors influencing your condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding CMT2K is limited primarily due to its extreme rarity, with fewer than 1 in 1,000,000 individuals affected. This low prevalence restricts the ability to conduct large-scale clinical studies, which are essential for understanding the full spectrum of the disease. Additionally, the genetic basis of CMT2K remains unidentified, complicating efforts to develop targeted therapies and comprehensive management strategies.
Patients with CMT2K typically experience a variety of symptoms that can impact mobility and daily life. Common features include gait disturbances and distal muscle weakness, which can lead to difficulty walking. Sensory impairments, such as decreased sensation in the hands and feet, are also prevalent. Additionally, muscle atrophy, particularly in the hands and distal limbs, may occur, affecting overall strength and function. These symptoms can vary in severity and may lead to arrhythmias in some cases.
To navigate your care for CMT2K, seek a neurologist with expertise in hereditary neuropathies, as they will be familiar with the nuances of this condition. You may also consider reaching out to organizations such as the National Organization for Rare Disorders (NORD) at rarediseases.org for additional resources and support. Participating in clinical trials could be beneficial, so inquire about any ongoing studies that you might qualify for. Genetic counseling may also be valuable, especially if there is a suspicion of hereditary factors influencing your condition.
Currently, there are no orphan drug designations for CMT2K, but there is one active clinical trial that may provide insights into potential treatments or management strategies. For more information on this trial, you can visit ClinicalTrials.gov and search for "autosomal dominant Charcot-Marie-Tooth disease type 2K". Participation in clinical trials may offer access to novel therapies and contribute to the broader understanding of this condition.
Actionable guidance for navigating care for autosomal dominant Charcot-Marie-Tooth disease type 2K
To navigate your care for CMT2K, seek a neurologist with expertise in hereditary neuropathies, as they will be familiar with the nuances of this condition. You may also consider reaching out to organizations such as the National Organization for Rare Disorders (NORD) at rarediseases.org for additional resources and support. Participating in clinical trials could be beneficial, so inquire about any ongoing studies that you might qualify for. Genetic counseling may also be valuable, especially if there is a suspicion of hereditary factors influencing your condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
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