Charcot-Marie-Tooth disease type 2E

Charcot-Marie-Tooth Disease Type 2E (CMT2E)

Charcot-Marie-Tooth disease type 2E, also known as CMT2E, is a form of axonal Charcot-Marie-Tooth disease. It is a peripheral sensorimotor neuropathy that affects the nerves outside the brain and spinal cord.

Key Features:

• Onset: The symptoms of CMT2E typically begin in the first to sixth decade of life.
• Gait Anomaly: Patients with CMT2E often experience a gait anomaly, which can be characterized by difficulty walking or maintaining balance.
• Leg Weakness: A leg weakness that reaches the arms secondarily is also common in individuals with CMT2E.
• Reduced Tendon Reflexes: Tendon reflexes are reduced or absent in patients with CMT2E.
• Pes Cavus: After years, all patients with CMT2E develop a pes cavus (high arch) of the foot.

Other Possible Signs:

• Hearing loss
• Postural tremor

CMT2E is an autosomal dominant neuropathy, meaning that a single copy of the mutated gene is enough to cause the condition. The mutation in the neurofilament-light gene (NEFL) is responsible for this form of Charcot-Marie-Tooth disease.

References:

• [1] A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
• [5] A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus.
• [11] Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus.
• [14] A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor.

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

Charcot-Marie-Tooth disease type 2E (CMT2E) is a rare form of peripheral neuropathy that affects the motor nerves. The symptoms of CMT2E can vary in severity and progression, but here are some common signs and symptoms associated with this condition:

• Muscle Weakness: Individuals experience weakness and atrophy of the muscles of the lower legs beginning in childhood, later followed by hand weakness [3].
• Distal Weakness: Distal weakness, muscle atrophy, sensory loss, decreased deep-tendon reflexes, and variable foot deformity are characteristic symptoms of CMT2E [4].
• Sensory Loss: Decreased sensitivity to touch, heat, and cold in the feet and lower legs is a common symptom of Charcot-Marie-Tooth disease, including type 2E [6].
• Foot Deformities: Variable foot deformity, such as pes cavus (high arch), can occur due to muscle weakness and atrophy [2, 4].
• Reduced Reflexes: Tendon reflexes are reduced or absent in patients with CMT2E [2].

Additional Symptoms

Some individuals may experience additional symptoms, including:

• Hearing loss
• Postural tremor

It's essential to note that the clinical presentation of CMT2E is similar to Type 1, with distal weakness, muscle atrophy, sensory loss, and foot deformities being common features [5].

References: [1] Not applicable (no relevant information in search results) [2] Context #2 [3] Context #3 [4] Context #4 [5] Context #5 [6] Context #6

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

Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Diagnostic tests are essential to confirm the diagnosis in symptomatic individuals or identify family members at risk.

• Genetic Testing: Molecular testing for CMT2E can be performed using genetic panels that analyze genes associated with Charcot-Marie-Tooth disease (CMT). The Invitae Charcot-Marie-Tooth Disease Comprehensive Panel, for example, analyzes genes that are associated with CMT [3].
• Clinical Evaluation: A comprehensive clinical evaluation is crucial to diagnose CMT2E. This includes a thorough medical history, physical examination, and assessment of symptoms such as gait anomaly and leg weakness [5].
• Laboratory Studies: Routine laboratory studies may be performed to rule out other conditions that can cause similar symptoms. These studies include erythrocyte sedimentation rate, vitamin B-12, folate, rapid plasma reagin, antinuclear antibodies, and others [9].

Genetic Test Algorithms Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and molecular testing. These algorithms can help identify the specific type of CMT, including CMT2E [4].

Confirming Diagnosis Molecular testing can confirm the diagnosis in symptomatic individuals or identify family members at risk. Genetic counseling is essential to discuss the results and implications with patients and their families [6].

References: [1] Not applicable [2] Not applicable [3] The Invitae Charcot-Marie-Tooth Disease Comprehensive Panel analyzes genes that are associated with Charcot-Marie-Tooth disease (CMT), a group of hereditary disorders. [4] Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and molecular testing. [5] A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness ... [6] Molecular testing for these conditions can be performed to confirm the diagnosis in symptomatic individuals or to identify family members at risk. [7] Not applicable [8] Diagnostic Test Interpretation; Digital Health ... Methods We prospectively evaluated the disease course in patients with CMT type 2. ... types I and II ... [9] Findings on routine laboratory studies, such as erythrocyte sedimentation rate, vitamin B-12, folate, rapid plasma reagin, antinuclear antibodies, and others.

Current Drug Treatments for CMT2E

While there is no cure for Charcot-Marie-Tooth disease (CMT) type 2E, various therapies are available to help manage symptoms and improve quality of life. Unfortunately, specific drug treatments for CMT2E are not well-studied or widely discussed in the provided search results.

General Treatment Options

However, general treatment options for CMT, including CMT2E, may include:

• Pain management: Neuropathic pain associated with CMT can be treated with tricyclic antidepressants or antiepileptic drugs such as carbamazepine or gabapentin [7].
• Symptomatic relief: Corticosteroids, antioxidants like Vitamin E, lipoic acid, and coenzyme Q may be used to alleviate symptoms [5].

Emerging Therapies

Recent developments in the field of CMT research suggest that new therapies are being explored. For example:

• NMD670: A Phase II trial for NMD670 has been approved by the FDA, which could potentially impact the treatment of CMT [4].
• NaV1.8 blockade: Oral subtype-selective NaV1.8 blockade may be a promising approach to treating severe demyelinating motor dysfunction, including CMT1B and possibly other forms of CMT [2].

Current Limitations

It's essential to note that there is currently no FDA/EMA-approved drug specifically for the treatment of CMT, and management still relies on rehabilitation, orthotics, and surgery [8][9]. Further research is needed to develop effective treatments for CMT2E.

References:

[1] Not applicable (no specific information available in search results) [2] Context result 2 [4] Context result 4 [5] Context result 5 [7] Context result 7 [8] Context result 8 [9] Context result 9

Charcot-Marie-Tooth disease (CMT) type 2E, also known as CMT2E/1F, is a rare subtype of axonal hereditary motor and sensory neuropathy. When it comes to differential diagnosis, several conditions need to be considered.

• Other forms of Charcot-Marie-Tooth disease: CMT1 (demyelinating) and CMT2 (axonal) are the two main categories of CMT. Within these categories, there are various subtypes, including CMT2E/1F. Differentiating between these subtypes is crucial for accurate diagnosis.
• Dejerine-Sottas disease: This is a severe form of demyelinating neuropathy that can be confused with CMT2E/1F due to its similar clinical and electrophysiologic features [7].
• Hereditary motor and sensory neuropathies (HMSNs): HMSNs are a group of disorders characterized by progressive degeneration of peripheral nerves. While they share some similarities with CMT, they have distinct genetic and clinical features.
• Other axonal neuropathies: Conditions like distal hereditary motor neuropathy (dHMN) and distal spinal muscular atrophy (dSMA) can also present with similar symptoms to CMT2E/1F. A thorough evaluation of the patient's medical history, physical examination, and electrophysiological studies is necessary to rule out these conditions.

It's essential to note that a positive family history and pedigree analysis can help elucidate the diagnosis [5]. Additionally, genetic testing may be required to confirm the presence of mutations in the NEFL gene associated with CMT2E/1F [8].

References: [5] Apr 17, 2023 — The differential diagnosis of neuropathy is wide. A positive family history makes CMT likely, and a pedigree can help elucidate the ... [7] by S Ramchandren · 2017 · Cited by 58 — Charcot-Marie-Tooth disease can be classified into type 1 (CMT1, demyelinating), type 2. (CMT2, axonal),. Dejerine-Sottas disease. (severe ... [8] by P De Jonghe · 2011 · Cited by 4 — CMT2E/1F is the only disorder associated with pathogenic variants in NEFL.