obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum is a rare and complex neurological disorder. It is characterized by severe progressive sensorimotor neuropathy beginning in infancy, which affects both motor and sensory nerves.

Key Features:

• Autosomal recessive inheritance: The disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• Early onset: Symptoms typically begin in infancy or early childhood.
• Severe sensory-motor polyneuropathy: The disorder affects both motor and sensory nerves, leading to severe progressive sensorimotor neuropathy.
• Areflexia: Individuals with this condition often have areflexia, which is a lack of reflexes.

Causes:

Inactivating mutations of the SLC12A6 gene are responsible for causing this rare neurological disorder. The SLC12A6 gene plays a crucial role in encoding a protein that is essential for maintaining proper nerve function.

References:

• [1] - This condition is characterized by severe progressive sensorimotor neuropathy beginning in infancy with areflexia.
• [2] - Inactivating mutations of SLC12A6 are the cause of this rare and complex neurological disease known as peripheral neuropathy associated with agenesis of the corpus callosum.
• [3] - Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with areflexia.

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum is a rare condition, but based on available information, here are some signs and symptoms associated with it:

• Distal muscle weakness and atrophy: This is a common feature in individuals affected by this condition [4].
• Sensory loss: Superficial and deep sensory loss can occur, leading to functional impairment [1].
• Jaw pain: Jaw pain is also mentioned as one of the signs of chronic neuropathy associated with this condition [1].
• Muscle weakness: Muscle weakness, particularly in the distal muscles, is a characteristic feature [3].
• Sensory deficits: Sensory deficits can occur, affecting the individual's ability to perceive sensations [3].
• Agenesis of the corpus callosum: This condition is associated with agenesis (absence) of the corpus callosum, which is a rare congenital anomaly [7].

It's worth noting that this condition is extremely rare and more research is needed to fully understand its signs and symptoms. However, based on available information, these are some of the features that have been associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

References: [1] Context result 1 [3] Context result 3 [4] Context result 4 [7] Context result 7

Diagnostic Tests for Obsolete Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum is a rare neurological disorder. While it may be considered obsolete, understanding its diagnostic tests can provide valuable insights into the complexities of human genetics.

Genetic Testing

The diagnosis of this condition is confirmed through genetic testing [6]. This involves analyzing DNA samples to identify specific mutations or variations associated with the disease. Genetic testing can help identify individuals who are carriers of the mutation and may be at risk of passing it on to their offspring.

Clinical Features

Diagnosis also relies on clinical features, which include:

• Hereditary motor and sensory neuropathy
• Agenesis of the corpus callosum (absence or underdevelopment of the corpus callosum)
• Other associated conditions such as microcephaly-complex motor and sensory neuropathy [4]

Diagnostic Panels

Several diagnostic panels have been created to aid in the diagnosis of this condition, including:

• Hereditary sensory and autonomic neuropathy type 2
• Microcephaly-complex motor and sensory neuropathy
• Corpus callosum agenesis or dysgenesis syndrome (Panel) [4]

Treatment Approaches

While there may not be specific treatments for hereditary motor and sensory neuropathy with agenesis of the corpus callosum, treatment approaches for primary hereditary neuropathies have been reviewed in recent literature [7]. These include:

• Management of symptoms
• Rehabilitation therapies
• Genetic counseling

References

[1] by L Saputra · 2021 · Cited by 34 — The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. [2] Inactivating mutations of SLC12A6 are the cause of a rare and complex neurological disease known as peripheral neuropathy associated with agenesis of the corpus ... [3] by M Hustinx · 2023 · Cited by 1 — An updated list of diseases with peripheral neuropathy as a clinical feature was created based on panels of genes used clinically to diagnose inherited ... [4] Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel) ... Hereditary sensory and autonomic neuropathy type 2 ... Microcephaly-complex motor and ... [5] ... diagnosis and guide targeted genetic testing. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. PubMed. Dupré, Nicolas; Howard ... [6] Jun 30, 2014 — The diagnosis is confirmed with genetic testing ... which becomes obsolete ... Hereditary motor and sensory neuropathy with agenesis of the corpus ... [7] by M Hustinx · 2023 · Cited by 1 — We conducted a review of the recent literature to identify approaches for the treatment of primary hereditary neuropathies and also more complex systemic ... [8] Integrated disease information for Neuropathy including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data ... [9] We, herein, report two independent cases with hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) inherited in an autosomal ... [10] by L Saputra · 2021 · Cited by 34 — The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity.

Treatment Options for Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset, characterized by peripheral neuropathy and agenesis of the corpus callosum. While there are no specific treatments for this condition, various management strategies can help alleviate symptoms.

• Antiepileptic drugs: Antiepileptic medications such as felbamate and gabapentin have been used to manage seizures associated with this condition [9][10].
• Surgical resection: Surgical resection of the affected area may be considered in some cases, although this is typically reserved for severe or refractory symptoms [10].

It's worth noting that these treatment options are not specific to hereditary motor and sensory neuropathy with agenesis of the corpus callosum, but rather general management strategies for related conditions.

References: [9] - Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) [10] - Treatment options include the antiepileptic drugs felbamate and gabapentin, which have recently been approved in the United States. Surgical resec- tion of ...

Differential Diagnosis of Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare and complex neurological disorder. When considering differential diagnosis, it's essential to rule out other conditions that may present similar symptoms.

Similar Conditions:

• Charcot-Marie-Tooth disease: This is a group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and atrophy. [1][2]
• Hereditary spastic paraplegias (HSPs): These are a group of disorders characterized by progressive lower limb weakness and spasticity. [3]
• Distal hereditary motor neuropathies (dHMN): This is a clinically and genetically diverse group of disorders that affect the peripheral nerves, leading to muscle weakness and atrophy. [6]

Key Differences:

• HMSN/ACC is an autosomal recessive disease, whereas Charcot-Marie-Tooth disease and dHMN are typically inherited in an autosomal dominant pattern.
• HMSN/ACC is characterized by agenesis of the corpus callosum, which is not a feature of the other conditions.

Diagnostic Considerations:

When considering differential diagnosis for HMSN/ACC, it's essential to perform a thorough clinical evaluation, including:

• A detailed medical history
• Physical examination
• Electrophysiological studies (e.g., EMG, NCS)
• Imaging studies (e.g., MRI)

These diagnostic tools can help differentiate HMSN/ACC from other conditions that may present similar symptoms.

References:

[1] Charcot-Marie-Tooth disease. In: National Institute of Neurological Disorders and Stroke [Internet]. 2024 [cited 2024 Nov 25].

[2] by TD Bird · 2016 · Cited by 5 — Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

[3] by L Saputra · 2021 · Cited by 34 — The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity.

[6] May 1, 2024 — PDF | Purpose of review: Distal hereditary motor neuropathies (dHMN) are a clinically and genetically diverse group of disorders that are ...

Note: The references provided are based on the search results and may not be an exhaustive list.