Charcot-Marie-Tooth disease recessive intermediate B

Charcot-Marie-Tooth Disease Recessive Intermediate B (CMTRIB)

Charcot-Marie-Tooth disease recessive intermediate B, also known as CMTRIB, is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease. It is characterized by a CMT neuropathy associated with distal sensory impairment predominantly [6].

This condition is caused by compound heterozygosity for mutations in the gene responsible for CMT disease [5]. The symptoms and progression of CMTRIB can vary, but it typically affects both motor and sensory nerves, leading to muscle weakness and atrophy, as well as sensory loss in the hands and feet.

Key Features:

• Autosomal recessive inheritance pattern
• Distal sensory impairment predominantly
• CMT neuropathy associated with distal muscle weakness and atrophy
• Rare subtype of autosomal recessive intermediate CMT disease

References:

[1] Oct 1, 2018 — In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably ... [5] A number sign (#) is used with this entry because of evidence that recessive intermediate Charcot-Marie-Tooth disease B (CMTRIB) is caused by compound ... [6] An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with ... [8] Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth ...

Common Signs and Symptoms of Charcot-Marie-Tooth Disease Recessive Intermediate B

Charcot-Marie-Tooth disease recessive intermediate B (CMT-RIB) is a subtype of Charcot-Marie-Tooth disease, a group of inherited disorders that affect the peripheral nerves. The symptoms of CMT-RIB can vary in severity and may include:

• Muscle weakness and atrophy: Muscle weakness and wasting are common features of CMT-RIB, particularly in the distal muscles of the lower legs [1].
• Sensory loss: People with CMT-RIB often experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs [2].
• Foot deformities: Foot dorsiflexor weakness can lead to hammertoe, pes cavus (high arch), and other foot deformities [3].
• Limb muscle weakness: Muscle weakness can also affect the hands, leading to split hand or ulnar claw deformities [4].
• Recurrent ankle sprains: Muscle weakness in the lower legs can increase the risk of repeated ankle sprains [5].

Other Possible Symptoms

In addition to these common symptoms, people with CMT-RIB may experience:

• Developmental delay: Some individuals may experience developmental delays or self-abusive behavior [6].
• Vestibular Schwannoma: A rare feature of CMT-RIB is the presence of a vestibular schwannoma (a non-cancerous tumor on the nerve responsible for balance) [7].

References

[1] Context 3 [2] Context 2 [3] Context 7 [4] Context 5 [5] Context 8 [6] Context 4 [7] Context 4

Diagnostic Tests for Charcot-Marie-Tooth Disease Recessive Intermediate B

Charcot-Marie-Tooth disease recessive intermediate B (CMT-B) is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth disease. Diagnostic tests are essential to confirm the diagnosis and identify family members at risk.

• Molecular testing: Molecular testing can be performed to confirm the diagnosis in symptomatic individuals or to identify family members at risk [4]. This test involves analyzing the genes associated with CMT-B, such as KARS1.
• Genetic testing: Genetic testing of these genes may help confirm a clinical diagnosis and predict disease severity [8].
• Comprehensive clinical evaluation: A comprehensive clinical evaluation is necessary to assess the individual's symptoms, medical history, and family history. This evaluation should be performed by a qualified healthcare professional with expertise in neurology or genetics.

Key Points

• Molecular testing can confirm the diagnosis of CMT-B.
• Genetic testing may help predict disease severity.
• Comprehensive clinical evaluation is essential for accurate diagnosis.

References

[4] Molecular testing for these conditions can be performed to confirm the diagnosis in symptomatic individuals or to identify family members at risk, July 27, 2023. [8] Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease severity, October 1, 2018.

Current Status of Drug Treatment for Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B

Unfortunately, there is still no effective drug treatment available for autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease type B. Current management relies on rehabilitation therapy, occupational therapy, and psychological support to help patients cope with the symptoms of the disease [3][9].

Research Efforts

However, researchers are actively exploring potential treatments for CMT. A clinical trial was conducted in 2015 using ulipristal acetate (EllaOne), an anti-progesterone drug, but its effectiveness is still unknown [4]. Another study has shown that onapristone, a progesterone antagonist, improved neuropathy in the CMT1A rat model, but this treatment has not been tested in humans yet [1].

Symptom Relief

While there is no cure for autosomal recessive intermediate CMT type B, drug treatments may help alleviate some symptoms. Neuropathic pain, a common symptom of CMT, may respond to tricyclic antidepressants or antiepileptic drugs such as carbamazepine or gabapentin [2].

Gene Therapy

Researchers are also exploring gene therapy as a potential treatment for CMT. Gene therapy aims to ameliorate or potentially cure symptoms of CMT with minimal adverse effects [5]. However, this approach is still in its early stages and requires further research.

References:

[1] Treatment with onapristone has improved neuropathy in the CMT1A rat model. [2] Neuropathic pain may respond to tricyclic antidepressants or antiepileptic drugs. [3] Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate CMT. [4] A clinical trial was conducted in 2015 using ulipristal acetate (EllaOne), but its effectiveness is still unknown. [5] Gene therapy aims to ameliorate or potentially cure symptoms of CMT with minimal adverse effects.

Based on the provided context, it appears that you are looking for information on the differential diagnosis of Charcot-Marie-Tooth (CMT) disease, specifically the recessive intermediate B type.

Types of CMT Disease

There are several types of CMT disease, which are differentiated by their effects on nerve cells and patterns of inheritance. The recessive intermediate B type is one of the subtypes of CMT disease.

• Recessive Intermediate B Type: This subtype is characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration [8].
• Differential Diagnosis: The differential diagnosis for CMT disease includes other hereditary and acquired neuropathies, such as Refsum disease, Tangier disease, and peripheral neuropathy [4].

Key Features

The key features of the recessive intermediate B type of CMT disease include:

• Intermediate motor median nerve conduction velocities
• Signs of both demyelination and axonal degeneration
• Presence of pes cavus (high arches) and other foot deformities
• Distal limb weakness and sensory alterations

Genetic Testing

Genetic testing is an essential tool in the diagnosis of CMT disease, including the recessive intermediate B type. This testing can help identify specific genetic mutations associated with the disease [7].

References

The information provided above is based on the following references:

• Refsum disease (autosomal recessive) may be associated with retinitis pigmentosa, deafness, ataxia, and icthyosis (scaly skin). Tangier disease ... [3]
• Peripheral neuropathy has a broad differential diagnosis: it can be the only manifestation, part of a complex neurological phenotype or part of ... [4]
• A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs ... [8]
• CMT is caused by genetic mutations with approximately 1000 mutations in 80 genes that are related to the physical presentation of the disease. The diagnosis and ... [9]

Please note that this information is based on a summary of the provided context, and it's essential to consult a medical professional for an accurate diagnosis and treatment plan.