Charcot-Marie-Tooth disease dominant intermediate E

Charcot-Marie-Tooth Disease Dominant Intermediate E: A Rare Hereditary Disorder

Charcot-Marie-Tooth disease dominant intermediate E is a rare hereditary disorder characterized by distal muscle weakness, atrophy, and sensory loss [7]. This form of the disease is classified as an autosomal dominant intermediate type, meaning that it is inherited in an autosomal dominant pattern and affects the peripheral nerves [2].

Key Features:

• Distal muscle weakness and atrophy
• Sensory loss
• Nerve biopsy reveals a mixed axonal-demyelinating process [3]
• Mild or moderate sensorineural hearing loss may also be associated [1]

Classification: Charcot-Marie-Tooth disease dominant intermediate E is classified as an autosomal dominant intermediate type, which means that it is inherited in an autosomal dominant pattern and affects the peripheral nerves [2]. There are currently ten Intermediate CMT subtypes, and they are classified into two categories according to their inheritance pattern: dominant or recessive [5].

Nerve Impulse Abnormalities: In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably due to a mixed axonal-demyelinating process [6]. This can lead to muscle weakness, atrophy, and sensory loss.

References:

[1] Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ... Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals ...

[2] Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral ...

[3] Intermediate CMT is an uncommon CMT variant characterized by a mixed axonal-demyelinating process. Whenever possible, this form of CMT is grouped in with the ...

[5] There are currently ten Intermediate CMT subtypes and they are classified into two categories according to their inheritance pattern: dominant or recessive.

[6] 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 ...

[7] Charcot-Marie-Tooth disease, dominant intermediate E is a rare hereditary disorder characterized by distal muscle weakness, atrophy, and sensory loss, along ...

Charcot-Marie-Tooth (CMT) disease, specifically the autosomal dominant intermediate type E variant, presents with a range of symptoms that can vary in severity and progression.

Common symptoms:

• Muscle weakness and atrophy: Progressive muscle weakness and atrophy are characteristic features of CMT, particularly affecting the feet, lower legs, and hands [4].
• Sensory loss: Mild or moderate sensorineural hearing loss may also be associated with this variant [1]. Distal mild pansensory loss is common, and sensation may be normal until adulthood [8].
• Numbness and pain: Decreased sensitivity to touch, heat, and cold in the feet and lower legs can occur, accompanied by numbness and pain [2].

Additional symptoms:

• Drop foot (foot drop): A condition where the foot cannot lift due to muscle weakness or paralysis [4].
• Distal amyotrophy: Muscle wasting and atrophy are more pronounced in the distal muscles of the limbs [7].
• Dysphagia: Difficulty swallowing can occur, particularly as the disease progresses [7].

Clinical features:

• Pes cavus (high arch): A foot deformity characterized by a high arch or a tendency to develop one [7].
• Areflexia: Decreased deep-tendon reflexes are common in individuals with CMT [7].
• Clusters of axonal regeneration: This feature is often observed in nerve biopsy samples from patients with CMT [1].

It's essential to note that the severity and progression of symptoms can vary significantly among individuals, even within the same family. A comprehensive medical evaluation by a neurologist or geneticist is necessary for an accurate diagnosis and management plan.

References: [1] - Context result 1 [2] - Context result 2 [4] - Context result 4 [7] - Context result 7 [8] - Context result 8

Diagnostic Tests for Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E

Diagnosing autosomal dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DI-E) involves a combination of clinical evaluation, nerve conduction studies, and genetic testing.

• Nerve Conduction Studies: These tests measure the speed and strength of electrical impulses traveling through nerves. In CMT-DI-E, nerve impulses are both slowed and reduced in strength [6].
• Genetic Testing: Molecular testing can be performed to confirm the diagnosis in symptomatic individuals or to identify family members at risk. Genetic test algorithms for CMT disease are based on family details and comprehensive clinical and genetic information [2][8].
• Nerve Biopsy: A nerve biopsy may also be used to support a diagnosis of CMT-DI-E, although it is not typically the first line of testing.
• Clinical Evaluation: A thorough medical history and physical examination are essential in diagnosing CMT-DI-E. The clinical features of CMT-DI-E include progressive muscle weakness and atrophy, particularly in the distal muscles of the limbs [3][4].

Key Points to Remember

• Nerve conduction studies can help diagnose CMT-DI-E by measuring slowed and reduced nerve impulses.
• Genetic testing is essential for confirming a diagnosis of CMT-DI-E and identifying family members at risk.
• A thorough clinical evaluation, including a medical history and physical examination, is necessary for diagnosing CMT-DI-E.

References

[1] Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ... Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals ...

[2] by R Østern · 2013 · Cited by 56 — Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and ...

[3] Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, ...

[4] Dominant Intermediate CMT, written as CMT-DI or CMTDI, is a group of six CMT subtypes that are intermediate as determined by nerve conduction study results and ...

[5] Jul 27, 2023 — Molecular testing for these conditions can be performed to confirm the diagnosis in symptomatic individuals or to identify family members at ...

[6] 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 ...

[7] Apr 30, 2024 — Genetic testing is needed to pinpoint the exact CMT subtype, but when signs and symptoms are consistent with CMT (the appropriate clinical ...

[8] by R Østern · 2013 · Cited by 56 — Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and ...

Based on the available information, it appears that there are no established effective pharmacological treatments for Charcot-Marie-Tooth disease (CMT), including its dominant intermediate form.

• According to search result [15], CMT is a genetically transmitted neuromuscular condition with extensive genetic heterogeneity, which presents a significant barrier to developing comprehensive drug treatments.
• Search result [9] mentions that there is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies (CMT), and current management relies on rehabilitation therapy, surgery, or other non-pharmacological interventions.
• Although search result [14] suggests that neuropathic pain associated with CMT may respond to certain medications such as tricyclic antidepressants or carbamazepine/gabapentin, this is not a treatment for the underlying disease itself.

It's worth noting that research on CMT is ongoing, and new studies are being conducted to explore potential treatments. However, based on the current information available, it seems that there are no established effective drug treatments specifically for dominant intermediate CMT.

References: [9], [14], [15]

The differential diagnosis for Charcot-Marie-Tooth (CMT) disease, specifically the dominant intermediate type (DI-CMT), is wide and includes various conditions that can present with similar symptoms. Here are some key points to consider:

• Peripheral neuropathy: DI-CMT is characterized by peripheral neuropathy, which can be a manifestation of other conditions as well.
• Differential diagnosis: The differential diagnosis for CMT includes conditions such as:
  • Hereditary neuropathy with liability to pressure palsies (HNPP)
  • Inherited brachial plexus neuropathy/hypertrophic neuropathy (IBPN/HNA)
  • Other forms of peripheral neuropathy, such as diabetic neuropathy or vasculitic neuropathy
• Diagnostic considerations: A positive family history can make CMT likely, and a pedigree can help in the diagnosis. However, it's essential to consider other conditions that may present with similar symptoms.
• Clinical features: DI-CMT is characterized by clinical features such as limb muscle weakness, pes cavus, talipes, difficulty running, distal muscle weakness, frequent falls, and delayed speech and language development.

It's crucial to note that the differential diagnosis for CMT is broad, and a comprehensive evaluation, including genetic testing, nerve conduction studies, and electromyography, may be necessary to confirm the diagnosis. [1][3][4][7]

References: [1] TD Bird · 2023 · Cited by 88 — Traditional classification of CMT (e.g., CMT1, CMT2, and DI-CMT [dominant intermediate]) was based on peripheral neuropathy type as determined ... [3] Apr 17, 2023 — Diagnostic Considerations. The differential diagnosis of neuropathy is wide. A positive family history makes CMT likely, and a pedigree can help ... [4] Clinical features · Limb muscle weakness · Pes cavus · Talipes · Difficulty running · Distal muscle weakness · Frequent falls · Delayed speech and language development. [7] Feb 18, 2019 — In typical CMT, symptoms are chronic and slowly progressive, but they may be episodic and asymmetric in patients with HNPP and IBPN/HNA. Most ...