Are there treatments for agenesis of the corpus callosum with peripheral neuropathy?

Information about treatment is currently limited for this condition.

What complications can arise from agenesis of the corpus callosum with peripheral neuropathy?

Agenesis of the corpus callosum with peripheral neuropathy can lead to significant complications, including severe muscle weakness and loss of reflexes. As the condition progresses, many individuals may become wheelchair-bound by their twenties. Additionally, psychiatric issues such as depression and hallucinations can complicate daily life.

What is the life expectancy for someone with agenesis of the corpus callosum with peripheral neuropathy?

The life expectancy for individuals with agenesis of the corpus callosum with peripheral neuropathy may be shortened. Many affected individuals may face significant health challenges and could die in their thirties. However, the exact life expectancy can vary based on individual circumstances and the severity of symptoms.

What are the intellectual and developmental challenges associated with agenesis of the corpus callosum with peripheral neuropathy?

Individuals with agenesis of the corpus callosum with peripheral neuropathy may experience mild to severe intellectual and developmental delays. These challenges can affect learning and social interactions. Some may also exhibit psychiatric features similar to autism, which can further complicate their development and daily life.

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agenesis of the corpus callosum with peripheral neuropathy - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Decreased nerve conduction velocity and Increased CSF protein concentration; and very common findings: Seizure, Interictal epileptiform activity, Intellectual disability, and Global developmental delay and others. 64 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	19	Peripheral axonal neuropathy, Mild intellectual disability, Inability to walk
Head and neck	7	Hypoplasia of the maxilla, Facial asymmetry, Facial diplegia
Muscles	5	Flexion contracture, Low muscle tone (hypotonia), Skeletal muscle atrophy
Arms and legs	5	Long fingers, 2-3 toe syndactyly, Tapered finger
Eyes	4	Ptosis, Strabismus, Nystagmus
Bones and joints	2	Skeletal muscle atrophy, Sideways curvature of the spine (scoliosis)
Lungs and breathing	2	Respiratory tract infection, Restrictive ventilatory defect
Digestive system	1	Feeding difficulties
Pregnancy and birth	1	Neonatal hypotonia
Lab test results	1	Increased CSF protein concentration

GeneReviews

Clinical Guidance

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is both a neurodevelopmental disorder (with variable degrees of dysgenesis of the corpus callosum and mild-to-severe intellectual disability) and a neurodegenerative disorder (severe progressive sensorimotor neuropathy). The neurologic findings of HMSN/ACC in 64 individuals (ages 2 to 34 years) in the French Canadian population reported by are summarized in , with additional information from , , and . Table 2. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum: Select Features

Feature	% of Persons w/Feature	Comment
Motor sensory neuropathy	100%	Cranial nerve involvement
Ptosis	33%-59%

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for agenesis of the corpus callosum with peripheral neuropathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Consensus clinical management recommendations for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) have not been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

System/Concern	Evaluation	Comment
neuropathy	Neurologic exam	Obtain EEG.; Consider MRI if not previously performed. Seizures
Musculoskeletal	Orthopedics / physical medicine rehab / PT OT eval	To incl assessment of:; Gross motor fine motor skills; Possible contractures (esp Achilles tendon); Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills); Mobility, self-help skills, ADL, need for adaptive devices
Scoliosis	Orthopedics pulmonary medicine	Baseline eval for scoliosis; Baseline pulmonary function assessment given risk for restrictive lung disease Extraocular muscle
involvement	Ophthalmologic exam	Assess for ptosis, esotropia or exotropia, gaze palsy, nystagmus. Developmental delay / Intellectual
disability

Source: GeneReviews — "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum"

Clinical Trials

View trials for agenesis of the corpus callosum with peripheral neuropathy

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Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

System/Concern	Evaluation	Frequency
neuropathy	Neurologic exam	Annual
Seizures	Evaluate response to current treatment.	Per treating neurologist Assess for new-onset seizures
Musculoskeletal	Per treating PT/OT	Annual or biannual
Scoliosis	Per treating orthopedist	Esp in early teen yrs when significant scoliosis is likely to appear; Annual or biannual Restrictive lung
disease	Monitor for evidence of respiratory insufficiency.	As needed if symptoms are present Extraocular muscle
involvement	Ophthalmologic exam	Per treating ophthalmologist Developmental delay /
Intellectual disability	Monitor developmental progress educational needs.	At each visit
Psychotic episodes	Evaluate response to current treatment.	As needed; Refer to psychiatrist. Evaluate for new-onset psychosis paranoid delusions.

Source: GeneReviews — "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum"

Phenotype severity distribution: 2 always present features, 8 very common features, 18 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218000

Orphanet

European rare disease database

Orphanet:1496

GARD

Genetic and Rare Diseases Info Center

GARD:1537

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about agenesis of the corpus callosum with peripheral neuropathy

This condition is a neurodegenerative disorder marked by severe, progressive sensorimotor neuropathy that begins in infancy. It affects the nerves that control movement and sensation, leading to decreased muscle tone (hypotonia), loss of reflexes (areflexia), and muscle wasting (amyotrophy). In addition, the brain structure called the corpus callosum, which connects the two sides of the brain, shows variable degrees of dysgenesis or may be absent. People with this condition may experience mild to severe intellectual and developmental delays. Psychiatric features like paranoid delusions, depression, hallucinations, and behaviors that are similar to autism have also been observed. The condition is inherited in an autosomal recessive pattern, which means that two copies of the mutated gene are needed for the disorder to occur.

Common symptoms include progressive sensorimotor neuropathy that affects movement and feeling. People may also have muscle weakness, decreased reflexes, and muscle wasting. There is also variable dysgenesis of the corpus callosum, and additional signs such as intellectual and developmental delays along with psychiatric manifestations like depression and hallucinations.

The disorder is inherited as an autosomal recessive trait, meaning that a child must receive a copy of the mutated gene from each parent to develop the condition. Mutations in the SLC12A6 gene have been identified as a cause of the nerve problems and other clinical features seen in this condition. Associated genes include SLC12A6.

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agenesis of the corpus callosum with peripheral neuropathy

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Clinical Guidance

Diagnosis

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Management Guidelines

Therapies Under Investigation

Clinical Trials

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Surveillance Guidelines

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External Resources

OMIM

Orphanet

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Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

agenesis of the corpus callosum with peripheral neuropathy

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

PLA2G6

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is agenesis of the corpus callosum with peripheral neuropathy?

What are the symptoms of agenesis of the corpus callosum with peripheral neuropathy?

What causes agenesis of the corpus callosum with peripheral neuropathy?

How is agenesis of the corpus callosum with peripheral neuropathy inherited?

How rare is agenesis of the corpus callosum with peripheral neuropathy?

How is agenesis of the corpus callosum with peripheral neuropathy diagnosed?

Are there treatments for agenesis of the corpus callosum with peripheral neuropathy?

What complications can arise from agenesis of the corpus callosum with peripheral neuropathy?

How does agenesis of the corpus callosum with peripheral neuropathy affect daily life?

What is the life expectancy for someone with agenesis of the corpus callosum with peripheral neuropathy?

What are the intellectual and developmental challenges associated with agenesis of the corpus callosum with peripheral neuropathy?