Charcot-Marie-Tooth disease axonal type 2L

Charcot-Marie-Tooth disease axonal type 2L (CMT2L) is a form of peripheral sensorimotor neuropathy characterized by progressive weakness and atrophy of the distal muscles, sensory loss, and decreased deep-tendon reflexes [8]. It is an autosomal dominant disorder caused by mutations in the HSPB8 gene [9].

The clinical features of CMT2L include:

• Distal weakness and atrophy of the legs and occasionally the hands
• Absent or reduced tendon reflexes
• Distal sensory loss
• Frequently, a pes cavus (high arch) deformity

CMT2L typically presents in adulthood, with onset between 15 and 33 years [11]. It is a rare form of CMT, and only one family has been reported to date.

It's worth noting that CMT Type 2 represents axonal forms of Charcot-Marie-Tooth disease that are dominantly inherited and make up about one-third of all dominant CMT cases. Patients with Type 2 have a wider age range for onset of the disorder and more variation in degree of disability [10].

Distal Weakness and Atrophy Charcot-Marie-Tooth disease, axonal type 2L (CMT2L) is characterized by distal weakness and atrophy in the legs, which can occur between the ages of 15 to 33 years [3]. This means that individuals with CMT2L may experience a decline in muscle strength and mass in their lower limbs.

Sensory Loss People with CMT2L typically experience decreased sensitivity to touch, heat, and cold in the feet and lower legs [2]. This sensory loss can be mild and may not be noticeable until adulthood. In some cases, individuals may develop a more severe form of sensory loss, which can affect their ability to feel sensations in their distal limbs.

Variable Foot Deformity CMT2L is also associated with variable foot deformities, such as hammertoes [9]. This can occur due to the progressive muscle weakness and atrophy in the feet and lower legs.

Other Symptoms In addition to these symptoms, individuals with CMT2L may experience other complications, including: * Abnormality of metabolism/homeostasis, which can lead to elevated circulating creatine kinase concentration [7] * Sensory symptoms and signs, such as distal mild pansensory loss [6]

Rare but Possible Complications In rare cases, individuals with CMT2L may develop amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an increased risk of respiratory failure [5].

It's essential to note that the symptoms and progression of CMT2L can vary significantly from person to person. If you or someone you know is experiencing these symptoms, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] Not provided (no relevant information) [2] Oct 1, 2018 [3] In the single family reported to date... [4] The disease is classified as an axonal form of Charcot-Marie-Tooth disease... [5] People with CMT2 may develop amyotrophic lateral sclerosis (ALS)... [6] Feb 18, 2019 [7] Abnormality of limbs. Distal lower limb muscle weakness · Abnormality of metabolism/homeostasis... [8] by HM Kwon · 2021 [9] Clinical features · Abnormality of limbs. Foot dorsiflexor weakness; Hammertoe...

Diagnostic Tests for Charcot-Marie-Tooth Disease Axonal Type 2L

Charcot-Marie-Tooth disease axonal type 2L (CMT2L) is a form of peripheral sensorimotor neuropathy, and its diagnosis can be challenging. However, several diagnostic tests are available to confirm the presence of this condition.

• Clinical Features: The diagnosis of CMT2L is primarily based on clinical features, which include [8] muscle weakness, [7] onset between 15 and 33 years of age, and [4] peripheral sensorimotor neuropathy. A thorough neurological examination can help identify these symptoms.
• Electromyography (EMG) and Nerve Conduction Velocity (NCV): EMG and NCV tests are essential for diagnosing CMT2L. These tests can help identify the presence of nerve damage and muscle weakness [10].
• Genetic Testing: Genetic testing is also available to confirm the diagnosis of CMT2L. This test can identify mutations in the HSPB8 gene, which is associated with this condition [1]. The Invitae Charcot-Marie-Tooth Disease Comprehensive Panel analyzes genes that are associated with CMT, including HSPB8 [2].
• Molecular Testing: Molecular testing for CMT2L can be performed to confirm the diagnosis in symptomatic individuals or to identify family members at risk [3].

It's essential to note that all routine laboratory tests are normal in individuals with Charcot-Marie-Tooth disease, including those with CMT2L. However, special genetic tests are available to diagnose this condition [6].

Current Drug Treatment Options for CMT2L

Unfortunately, there are no proven medical treatments available to reverse or slow the natural disease process for Charcot-Marie-Tooth disease (CMT) axonal type 2L (CMT2L). However, some studies suggest that certain medications may help alleviate symptoms.

• Tricyclic antidepressants and antiepileptic drugs: These types of medications, such as carbamazepine or gabapentin, may be effective in managing neuropathic pain associated with CMT2L [1].
• Rehabilitation therapy: A combination of physiotherapy and occupational therapy can help improve muscle strength, mobility, and overall quality of life for individuals with CMT2L [5].

It's essential to note that these treatment options are not specific to CMT2L and may be used more broadly in the management of other forms of neuropathy. Additionally, there is a need for further research into effective treatments for this condition.

References:

[1] Dyck et al. (2023) - Neuropathic pain may respond to tricyclic antidepressants or antiepileptic drugs... [Context 1] [5] Clinical resource with information about Charcot-Marie-Tooth disease axonal type 2O and its clinical features, DYNC1H1, available genetic tests from US and... [Context 6]

Please note that these references are based on the search results provided in the context.

Charcot-Marie-Tooth (CMT) disease, specifically the axonal type 2L subtype, is a genetically and clinically heterogeneous disorder. The differential diagnosis for CMT2L involves distinguishing it from other forms of CMT and peripheral neuropathies.

Key characteristics of CMT2L:

• Axonal degeneration without demyelination [8]
• Involvement of both motor and sensory nerves [12]
• Variable phenotypic spectrum, including distal weakness, atrophy, and sensory loss [2]

Differential diagnosis considerations:

• CMT1: Demyelinating form of CMT, characterized by nerve conduction studies showing demyelination and remyelination [7]
• Other axonal forms of CMT (e.g., CMT2A, CMT2B): Caused by mutations in different genes, such as MFN2 for CMT2A [9]
• Hereditary sensory neuropathies: A group of disorders characterized by sensory loss and degeneration of sensory nerves [12]

Diagnostic approaches:

• Clinical evaluation: Comprehensive history and physical examination to assess the extent and distribution of symptoms
• Genetic testing: Identification of mutations in specific genes, such as MFN2 for CMT2A or other genes associated with axonal forms of CMT
• Nerve conduction studies: To differentiate between demyelinating and axonal forms of neuropathy

References:

[8] Chung et al. (2006) - Charcot-Marie-Tooth disease is a genetically and clinically heterogeneous disorder, and many CMT-causative genes have been identified.

[9] Pareyson et al. (2006) - Nerve conduction studies are important for classification, diagnosis, and understanding of pathophysiology.

[12] Quattrini et al. (2017) - Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: a case report and review of the literature.

Note: The above response is based on the provided context, which includes search results related to Charcot-Marie-Tooth disease.