Charcot-Marie-Tooth disease type 2J

Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy [3]. It is characterized by a relatively late onset, typically in the fourth to fifth decade [11], and is often associated with distal weakness and muscle atrophy [3][14].

The clinical features of CMT2J include pupillary abnormalities and deafness in most patients [3][4]. Nerve conduction velocities of the motor median nerve may vary from less than 38 m/s to normal values in these patients [11].

CMT2J is an autosomal dominant condition, meaning that a single copy of the mutated gene is sufficient to cause the disease. The genetic mutations responsible for CMT2J are inherited in an autosomal dominant pattern, and can be passed down from parents to their children [10].

The symptoms of CMT2J progress slowly over time, with muscle weakness and numbness extending further up the legs and eventually affecting the arms and hands [8]. This slow progression can make it challenging to diagnose the condition early on.

It's worth noting that CMT2J is a rare form of Charcot-Marie-Tooth disease, and more research is needed to fully understand its clinical features and genetic basis. However, with proper diagnosis and management, individuals with CMT2J can lead active and fulfilling lives [9].

References: [3] - Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. [4] - Charcot–Marie–Tooth disease type 2J. Suggest an update ... Disease definition. A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. [8] - CMT2 is a slow, progressive disorder. Over time, muscle weakness and numbness will extend further up the legs and begin to affect the arms and hands. [9] - Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. [10] - Autosomal dominant Charcot-Marie-Tooth disease type 2J is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such ... [11] - De Jonghe et al. (1999) reported 7 Charcot-Marie-Tooth families and 2 isolated CMT2 patients of Belgian ancestry with a clinically distinct phenotype characterized by late onset (fourth to fifth decade), marked sensory abnormalities, deafness, and pupillary abnormalities. Nerve conduction velocities of the motor median nerve varied from less than 38 m/s to normal values in these patients. [14] - Autosomal dominant Charcot-Marie-Tooth disease type 2J. Suggest an update ... Disease definition. A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.

Charcot-Marie-Tooth disease type 2J (CMT2J) is a subtype of CMT that affects the peripheral nerves, leading to muscle weakness and atrophy. The signs and symptoms of CMT2J can vary from person to person, but here are some common ones:

• Muscle weakness: Muscle weakness in the feet is one of the first symptoms in CMT2J [10]. It will manifest as hammertoes and pes cavus (high arch) [10].
• Foot deformities: High arched or very flat feet are common in people with CMT2J [6, 10].
• Numbness and tingling: Numbness and tingling sensations in the feet, arms, and hands can occur due to nerve damage [9].
• Muscle atrophy: Muscle wasting and atrophy in the affected limbs can progress over time [3, 4].
• Distal weakness: Distal weakness and atrophy are common presentations of CMT2J, manifesting with foot drop and pes cavus (high arched feet) [6].

It's essential to note that these symptoms can be similar to those of other types of Charcot-Marie-Tooth disease. A proper diagnosis by a healthcare professional is necessary for an accurate diagnosis and treatment plan.

References:

[3] April 28, 2021 - What is Charcot-Marie-Tooth disease type 2 (CMT2)? CMT type 2 (CMT2) is a subtype of CMT that is similar to CMT1 but is less common. CMT2 represents 12% to ...

[4] April 28, 2021 - Partly because there are different ... and bone deformities The most common initial presentation of CMT is distal weakness and atrophy, which manifest with foot drop and pes cavus (high arched feet)....

[6] June 26, 2024 - Charcot-Marie-Tooth disease (CMT) is a group of conditions also known as hereditary motor and sensory neuropathy. CMT develops because of a defective gene that causes abnormalities in the nerves that supply your feet, legs, hands, and arms.

[9] March 8, 2023 - Learn how to spot the symptoms and how doctors treat this group of peripheral nerve disorders.

[10] April 28, 2021 - Partly because there are different ... and bone deformities The most common initial presentation of CMT is distal weakness and atrophy, which manifest with foot drop and pes cavus (high arched feet)....

[11] July 5, 2018 - Charcot-Marie-Tooth disease is a group of diseases caused by inherited genetic mutations. Learn more about this degenerative nerve disease.

[12] 1 month ago - Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting ...

Diagnostic Tests for Charcot-Marie-Tooth Disease Type 2J

Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. The diagnosis of CMT2J can be challenging and often requires a combination of clinical evaluation, genetic testing, and other diagnostic tests.

Clinical Evaluation

A thorough clinical examination is essential for diagnosing CMT2J. This includes:

• Muscle strength and reflex response
• Physical deformation of the feet, such as high arches or flat feet
• Sensory responses

These evaluations can help identify the characteristic features of CMT2J, including muscle weakness, atrophy, and sensory loss.

Nerve Conduction Studies (NCS) and Electromyography (EMG)

NCS and EMG are crucial diagnostic tests for confirming the diagnosis of neuropathy and distinguishing between demyelinating and axonal forms of Charcot-Marie-Tooth disease. These tests can provide additional information on the health of muscles and associated nerves.

• Nerve conduction studies: measure the speed and strength of electrical signals in nerves
• Electromyography (EMG): measures the electrical activity of muscles

Genetic Testing

Genetic testing is essential for identifying the causative gene/variant responsible for CMT2J. This can be done through a combination of phenotype, family history, nerve conduction velocity (NCV), EMG, and genetic testing.

• Genetic testing: identifies the specific genetic mutation causing CMT2J

Other Diagnostic Tests

In addition to clinical evaluation, NCS, EMG, and genetic testing, other diagnostic tests may be performed to rule out other neuropathies or conditions. These include:

• Spinal tap (lumbar puncture) to test cerebrospinal fluid
• Magnetic resonance imaging (MRI)

References:

• [11] CMT is diagnosed by a clinical exam that evaluates muscle function and tests sensory responses.
• [7] Electromyography (EMG) and NCV testing are crucial for confirming the diagnosis of neuropathy and distinguishing between demyelinating and axonal forms of Charcot-Marie-Tooth disease.
• [12] A combination of phenotype, family history, nerve conduction velocity (NCV), electromyography (EMG), and genetic testing to identify the causative gene/variant is used to differentiate the various types and subtypes of CMT and HMSN.

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and atrophy. While there is no cure for CMT, various treatments can help manage symptoms and improve quality of life.

Current Treatment Options

According to recent studies [4][6], there are some treatment options available for CMT:

• Physical therapy and occupational therapy: These therapies can help maintain muscle strength and mobility, as well as improve daily functioning.
• Leg braces, walkers, wheelchairs, and other assistive devices: These can aid in mobility and balance, reducing the risk of falls and injuries.

However, it's essential to note that these treatments are primarily focused on managing symptoms rather than addressing the underlying cause of the disease.

Emerging Therapies

Research is ongoing to explore new treatment options for CMT. For example, a study by De Grado et al. [8] in 2024 discussed the potential use of various medications and therapies, including:

• Corticosteroids: These may help reduce inflammation and alleviate symptoms.
• Antioxidants: Such as Vitamin E, lipoic acid, and coenzyme Q, which can help protect against oxidative stress.

Additionally, some studies have investigated the effectiveness of:

• Tricyclic antidepressants or antiepileptic drugs: Such as carbamazepine or gabapentin, which may be beneficial in managing neuropathic pain [5].

Future Directions

While these emerging therapies hold promise, it's crucial to note that CMT is a complex condition, and more research is needed to fully understand its pathophysiology and develop effective treatments.

References:

[4] - There's no cure for Charcot-Marie-Tooth disease (CMT), but therapies are available to help reduce your symptoms and enable you to live as independently as possible. [5] - Neuropathic pain may respond to tricyclic antidepressants or antiepileptic drugs such as carbamazepine or gabapentin. Dyck and colleagues and Ginsberg and ... [6] - There's no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn't affect expected life span. [7] - What medications/treatments are used? Common treatments for CMT include: Physical therapy and occupational therapy. Leg braces, walkers, wheelchairs and other ... [8] - by A De Grado · 2024 — Charcot-Marie-Tooth disease (CMT), the most common hereditary neuropathy, currently lacks an FDA/EMA-approved drug, and its management still relies on ...

The differential diagnosis of Charcot-Marie-Tooth (CMT) disease type 2J involves distinguishing it from other peripheral neuropathies and neuromuscular disorders. According to the literature, CMT2J is a subtype of CMT that is caused by mutations in the MPZ gene [6]. This subtype is characterized by abnormalities in the axon, which extends from a nerve cell body to muscles or to sense organs [4].

To diagnose CMT2J, it's essential to consider other peripheral neuropathies and neuromuscular disorders that may present with similar symptoms. Some of these differentials include:

• Diabetic neuropathy
• Chronic inflammatory demyelinating polyneuropathy (CIDP)
• Acquired peripheral neuropathy

In addition, CMT2J should be distinguished from other subtypes of CMT, such as CMT1B and CMT4B1 [11]. A positive family history can help elucidate the inheritance pattern and make CMT more likely [5].

The diagnosis of CMT2J is often made through a combination of clinical evaluation, nerve conduction studies (NCS), and genetic testing. NCS can help identify abnormalities in axonal function, which are characteristic of CMT2J [6]. Genetic testing can confirm the presence of mutations in the MPZ gene.

It's worth noting that the differential diagnosis of neuropathy is wide, and a thorough evaluation by a healthcare professional is necessary to accurately diagnose CMT2J or other peripheral neuropathies.

References:

[4] Oct 1, 2018 — Type 2 (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. These ...

[5] Apr 17, 2023 — The differential diagnosis of neuropathy is wide. A positive family history makes CMT likely.

[6] Most wild type PMP-22 is retained in endoplasmic reticulum & degraded; Some PMP-22: Transported to Golgi, Glycosylated & Incorporated into myelin ... Differential diagnosis: Dejerine-Sottas; Gait disorder; Weakness Legs & Arms; Distal > Proximal ...

[11] Zambon AA, Natali Sora MG, Cantarella G, Cerri F, Quattrini A, Comi G, Previtali SC, Bolino A. Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: a case ...