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Charcot-marie-tooth Disease Type 1c

Disease Details

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Description: Charcot-Marie-Tooth disease type 1C is a genetic disorder characterized by progressive damage to the peripheral nerves, leading to muscle weakness and sensory loss, particularly in the limbs.
Type: Charcot-Marie-Tooth disease type 1C (CMT1C) is inherited in an autosomal dominant pattern.
Signs And Symptoms: Symptoms of CMT usually begin in early childhood or early adulthood but can begin later. Some people do not experience symptoms until their early 30s or 40s. Usually, the initial symptom is foot drop or high arches early in the course of the disease. This can be accompanied by hammertoe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance. Weakness in the hands and forearms occurs in many people as the disease progresses.Loss of touch sensation in the feet, ankles, and legs as well as in the hands, wrists, and arms occurs with various types of the disease. Early- and late-onset forms occur with 'on and off' painful spasmodic muscular contractions that can be disabling when the disease activates. High-arched feet (pes cavus) or flat-arched feet (pes planus) are classically associated with the disorder. Sensory and proprioceptive nerves in the hands and feet are often damaged, while unmyelinated pain nerves are left intact. Overuse of an affected hand or limb can activate symptoms including numbness, spasm, and painful cramping.Symptoms and progression of the disease can vary. Involuntary grinding of teeth and squinting are prevalent and often go unnoticed by the person affected. Breathing can be affected in some, as can hearing, vision, and neck and shoulder muscles. Scoliosis is common, causing hunching and loss of height. Hip sockets can be malformed. Gastrointestinal problems can be part of CMT, as can difficulty chewing, swallowing, and speaking (due to atrophy of vocal cords). A tremor can develop as muscles waste. Pregnancy has been known to exacerbate CMT, as well as severe emotional stress. Patients with CMT must avoid periods of prolonged immobility such as when recovering from a secondary injury, as prolonged periods of limited mobility can drastically accelerate symptoms of CMT.Pain due to postural changes, skeletal deformations, muscle fatigue, and cramping is fairly common in people with CMT. It can be mitigated or treated by physical therapies, surgeries, and corrective or assistive devices. Analgesic medications may also be needed if other therapies do not provide relief from pain. Neuropathic pain is often a symptom of CMT, though, like other symptoms of CMT, its presence and severity vary from case to case. For some people, pain can be significant to severe and interfere with daily life activities. However, pain is not experienced by all people with CMT. When neuropathic pain is present as a symptom of CMT, it is comparable to that seen in other peripheral neuropathies, as well as postherpetic neuralgia and complex regional pain syndrome, among other diseases.
Prognosis: The severity of symptoms varies widely even for the same type of CMT. Cases of monozygotic twins with varying levels of disease severity have been reported, showing that identical genotypes are associated with different levels of severity (see penetrance). Some patients are able to live a normal life and are almost or entirely asymptomatic. A 2007 review stated that, "life expectancy is not known to be altered in the majority of cases."
Onset: Charcot-Marie-Tooth disease type 1C typically has an onset in childhood or adolescence.
Prevalence: The prevalence of Charcot-Marie-Tooth Disease Type 1C (CMT1C) is not precisely known but is considered to be a rare subtype of Charcot-Marie-Tooth disease. CMT, in general, affects approximately 1 in 2,500 people. Within that, CMT1C represents a smaller fraction of cases.
Epidemiology: Charcot-Marie-Tooth disease type 1C (CMT1C) is a subtype of Charcot-Marie-Tooth disease, which is a group of inherited peripheral neuropathies. It is specifically caused by mutations in the LITAF (lipopolysaccharide-induced tumor necrosis factor-alpha factor) gene.

Epidemiology:
- Prevalence: Charcot-Marie-Tooth disease as a group affects approximately 1 in 2,500 people worldwide. However, specific prevalence data for CMT1C is not well-defined due to its rarity.
- Demographics: CMT1C, like other subtypes of CMT, affects both males and females equally. It typically manifests during childhood or early adulthood.
- Inheritance: CMT1C is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene inherited from either parent can cause the disease.

In conclusion, while comprehensive prevalence data specific to CMT1C is limited due to its rarity, the broader category of Charcot-Marie-Tooth disease is relatively common among inherited neurological disorders. CMT1C involves nerve damage that progresses over time, leading to muscle weakness and sensory deficits, largely impacting lower limbs initially and later upper limbs.
Intractability: Charcot-Marie-Tooth disease type 1C (CMT1C) is a form of inherited neurological disorder characterized by progressive muscle weakness and atrophy, primarily affecting the limbs. Currently, there is no cure for CMT1C, making it an intractable disease. However, treatments such as physical therapy, occupational therapy, orthopedic devices, and pain management can help alleviate symptoms and improve quality of life. Research is ongoing to find more effective treatments and potential cures.
Disease Severity: Charcot-Marie-Tooth disease type 1C (CMT1C) typically presents with a variable disease severity. It is generally characterized by progressive muscle weakness and atrophy, primarily in the distal legs and sometimes in the hands. The severity can range from mild to moderate, and the progression speed can vary among individuals. Patients might experience difficulties with walking, balance, and fine motor skills, but the condition does not typically affect life expectancy.
Healthcare Professionals: Disease Ontology ID - DOID:0110151
Pathophysiology: Charcot-Marie-Tooth disease type 1C (CMT1C) is a subtype of Charcot-Marie-Tooth disease, which is a hereditary motor and sensory neuropathy. The pathophysiology of CMT1C primarily involves mutations in the LITAF (lipopolysaccharide-induced tumor necrosis factor-alpha factor) gene. This gene is important in the maintenance of myelin, the protective sheath around nerve fibers that ensures efficient transmission of electrical impulses.

In CMT1C, the mutated LITAF gene leads to abnormalities in myelin formation and maintenance. This results in demyelination, where the myelin sheath is damaged or lost, causing the affected nerves to transmit signals more slowly. Over time, this demyelination can lead to secondary axonal degeneration. Clinically, this manifests as progressive weakness and atrophy of muscles in the distal limbs (hands and feet), sensory loss, and sometimes, foot deformities.
Carrier Status: Charcot-Marie-Tooth Disease Type 1C (CMT1C) is an inherited neurological disorder caused by mutations in the LITAF/SIMPLE gene. The inheritance pattern is autosomal dominant, meaning a single copy of the mutated gene, inherited from one parent, is sufficient to cause the disorder. Therefore, there are no carriers in the traditional sense, as individuals with one copy of the mutated gene will typically exhibit symptoms of the disease.
Mechanism: Charcot-Marie-Tooth Disease Type 1C (CMT1C) is a subtype of Charcot-Marie-Tooth disease, a group of inherited neuropathies. It primarily affects the peripheral nervous system, leading to progressive muscle weakness and sensory loss.

**Mechanism:**
CMT1C is primarily caused by mutations in the LITAF (lipopolysaccharide-induced TNF factor) gene. This gene is involved in the regulation of myelin, the protective sheath around nerve fibers. Abnormalities in the LITAF gene result in defective myelin production and maintenance, impairing nerve signal transmission.

**Molecular Mechanisms:**
Mutations in the LITAF gene affect the normal function of LITAF protein, which plays a role in endosomal-lysosomal trafficking and sorting. These abnormalities disrupt cellular homeostasis and myelin integrity, leading to demyelination—the process where myelin sheath is damaged. The demyelination hampers efficient nerve conduction, causing the clinical manifestations of CMT1C such as muscle weakness, atrophy, and sensory deficits.
Treatment: Charcot-Marie-Tooth Disease Type 1C (CMT1C) is a subtype of the inherited neurological disorder known as Charcot-Marie-Tooth disease. While there is no cure for CMT1C, treatments focus on managing symptoms and improving quality of life. These can include:

1. **Physical Therapy**: Exercises to strengthen muscles, improve flexibility, and prevent muscle contractures.
2. **Occupational Therapy**: Techniques and devices to assist with daily activities and maintain independence.
3. **Orthopedic Devices**: Braces, splints, and custom-made shoes to support weakened limbs and improve mobility.
4. **Pain Management**: Medications and therapies to manage neuropathic pain.
5. **Surgery**: In some cases, surgical intervention may be necessary to correct severe foot deformities or other orthopedic issues.
6. **Supportive Care**: Regular monitoring by a neurologist and a multidisciplinary team to address complications and adjust treatments as needed.

It is important for individuals with CMT1C to maintain a healthy lifestyle, including a balanced diet and regular low-impact physical activity, to support overall health and mobility.
Compassionate Use Treatment: Charcot-Marie-Tooth disease type 1C (CMT1C) is a subtype of the inherited neurological disorder that affects peripheral nerves. Current research into potential off-label, experimental, or compassionate use treatments includes:

1. **Gene Therapy:** Though still in experimental stages, gene therapy aims to address the genetic defects causing CMT1C and correct or replace the faulty gene.

2. **Neurotrophic Factors:** These are proteins that help to support the growth, survival, and differentiation of neurons. Experimental treatments are evaluating their potential role in slowing or ameliorating the nerve damage associated with CMT1C.

3. **Biomolecular Approaches:** Small molecule drugs aiming to modulate or stabilize proteins involved in CMT1C are under investigation. Therapies that target molecular pathways related to the disease's progression are also being explored.

4. **Antisense Oligonucleotides (ASOs):** These are short, synthetic pieces of nucleic acids that can alter RNA to reduce the effects of genetic mutations. Research is ongoing to see if ASOs can be effective in treating CMT1C.

5. **Physical Therapy and Occupational Therapy:** While not experimental, these are critical supportive treatments that can help manage symptoms and improve quality of life, often used alongside experimental treatments.

For any potential treatments, consulting with a specialist is essential to understand the latest advancements and eligibility for compassionate use or participation in clinical trials.
Lifestyle Recommendations: Lifestyle recommendations for Charcot-Marie-Tooth disease type 1C (CMT1C) typically focus on maintaining mobility, minimizing discomfort, and optimizing overall health. Here are some key recommendations:

1. **Physical Therapy**: Regular physiotherapy can help maintain muscle strength and improve flexibility. Customized exercise programs focusing on strength, balance, and coordination are beneficial.

2. **Orthopedic Devices**: Use of orthotic devices such as braces or custom footwear to support weakened muscles, improve walking, and prevent injury.

3. **Exercise**: Low-impact activities like swimming, cycling, and walking can help maintain cardiovascular health without putting undue strain on the muscles and joints.

4. **Foot Care**: Regular podiatric visits to manage foot deformities, prevent ulcers, and maintain foot hygiene.

5. **Diet and Nutrition**: A balanced diet rich in nutrients supports overall health. Maintaining an appropriate weight is important to reduce strain on muscles and joints.

6. **Pain Management**: Techniques such as heat/cold therapy, massage, or medications as prescribed by a healthcare provider.

7. **Assistive Devices**: Use of mobility aids like canes or wheelchairs when necessary to maintain independence.

8. **Regular Medical Check-Ups**: Ongoing monitoring by a neurologist or specialist to manage symptoms and adjust treatments as necessary.

9. **Support Groups**: Participation in support groups or counseling for emotional and psychological support.

10. **Ergonomic Adjustments**: Modifying the home and workplace to reduce physical strain and increase safety, such as using ergonomic tools and arranging furniture for easier navigation.

These recommendations are meant to improve quality of life and reduce the impact of CMT1C on daily activities. Always consult with healthcare providers for personalized advice.
Medication: Charcot-Marie-Tooth Disease Type 1C (CMT1C) typically does not have specific medications to cure or halt the disease. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, braces, or orthopedic devices to assist with mobility. Pain management can involve medications such as nonsteroidal anti-inflammatory drugs (NSAIDs). As of now, no nano-based therapies are standard for this type of CMT.
Repurposable Drugs: Charcot-Marie-Tooth Disease Type 1C (CMT1C) is a subtype of Charcot-Marie-Tooth disease, which is a hereditary motor and sensory neuropathy. As of my most recent data, there are no widely accepted repurposable drugs specifically for CMT1C. Treatments are generally supportive, focusing on physical therapy, orthotic devices, and pain management. Research is ongoing, so it's important to consult recent studies or clinical trials for updates on potential drug repurposing efforts.
Metabolites: Charcot-Marie-Tooth disease type 1C (CMT1C) is associated with mutations in the LITAF (lipopolysaccharide-induced tumor necrosis factor-alpha factor) gene. As of now, there are no specific metabolites identified that are directly associated with CMT1C. However, research in the field of metabolomics might provide more insights in the future. For detailed and specific metabolic changes, laboratory testing and studies are recommended.
Nutraceuticals: Charcot-Marie-Tooth Disease Type 1C (CMT1C) is a subtype of Charcot-Marie-Tooth disease, a genetic disorder affecting the peripheral nerves. In the context of nutraceuticals (nutrition-based compounds with potential therapeutic effects), there is limited evidence supporting their efficacy specifically for CMT1C. However, general recommendations for managing symptoms may include:

1. **Antioxidants**: Supplements such as vitamin C, vitamin E, alpha-lipoic acid, and coenzyme Q10, which may help reduce oxidative stress.
2. **Omega-3 Fatty Acids**: Found in fish oil, these may support nerve health and reduce inflammation.
3. **B Vitamins**: Crucial for nerve health, especially B12, B6, and B1.

Always consult with a healthcare provider before starting any new supplement regimen.
Peptides: Charcot-Marie-Tooth Disease Type 1C (CMT1C) is a subtype of Charcot-Marie-Tooth disease, a genetic disorder affecting the peripheral nerves. This particular subtype is linked to mutations in the LITAF/ SIMPLE gene. Peptides and nanotechnology are emerging areas of research in developing potential treatments, focusing on delivering therapeutic agents, modifying gene expression, or repairing nerve damage. However, specific peptide-based or nanotechnology treatments for CMT1C are still in experimental stages or are being researched.