How is Charcot-Marie-Tooth disease, axonal, IIa 2II inherited?

Charcot-Marie-Tooth disease, axonal, IIa 2II follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is Charcot-Marie-Tooth disease, axonal, IIa 2II diagnosed?

Information about how this condition is diagnosed is currently limited for this condition.

Are there treatments for Charcot-Marie-Tooth disease, axonal, IIa 2II?

Information about treatment options and management approaches is currently limited for this condition.

What complications can arise from Charcot-Marie-Tooth disease, axonal, IIa 2II?

Currently, there is limited information about the specific complications that can arise from Charcot-Marie-Tooth disease, axonal, IIa 2II. However, since it affects the peripheral nerves, patients may experience issues with movement and sensation. This could lead to difficulties in daily activities, but more research is needed to understand the full range of complications.

How might Charcot-Marie-Tooth disease, axonal, IIa 2II affect daily life?

Charcot-Marie-Tooth disease, axonal, IIa 2II can impact daily life by causing challenges with movement and sensation. Patients may find it harder to walk, run, or perform tasks that require fine motor skills. Since detailed information about daily management is limited, it's important for families to seek support and adapt their routines as needed.

What is the prognosis for someone with Charcot-Marie-Tooth disease, axonal, IIa 2II?

The prognosis for Charcot-Marie-Tooth disease, axonal, IIa 2II is currently unclear due to limited information available. While some patients may experience mild symptoms, others could face more significant challenges. Ongoing research is necessary to better understand the long-term outlook for individuals with this condition.

Are there any specialists recommended for Charcot-Marie-Tooth disease, axonal, IIa 2II?

At this time, there is no specific information about recommended specialists for Charcot-Marie-Tooth disease, axonal, IIa 2II. However, patients may benefit from consulting with neurologists or geneticists who have experience with peripheral nerve disorders. These specialists can help provide guidance and support tailored to the needs of individuals with this condition.

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Charcot-Marie-Tooth disease, axonal, IIa 2II - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Charcot-Marie-Tooth disease, axonal, IIa 2II

MONDO:0031068

Also known as:CMT2IIcharcot-marie-tooth neuropathy, IIa 2II

Overview

GeneticsAutosomal dominant · SLC12A6 (chr 15)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased motor nerve conduction velocity, Motor delay, Increased endomysial connective tissue, and Lower limb muscle weakness and others; and common findings: Abolished vibration sense, Achilles tendon contracture, Distal upper limb amyotrophy, and Proximal upper limb muscle weakness and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

SLC12A6 function has not been fully characterized.

Charcot-Marie-Tooth disease, axonal, IIa 2II is associated with mutations in the SLC12A6 gene on chromosome 15.

GeneReviews

Clinical Guidance

The data from affected individuals are insufficient to establish genotype-phenotype correlations.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Consensus diagnostic criteria for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) have not been established.

Suggestive Findings

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) should be suspected in individuals with the following clinical, electrophysiologic, and neuroimaging findings, and family history .

Clinical findings

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 Charcot-Marie-Tooth disease, axonal, IIa 2II. 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

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620068

Questions for Your Care Team

→Should I pursue genetic testing for SLC12A6, and what would the results mean for my family?
→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 Charcot-Marie-Tooth disease, axonal, IIa 2II

Charcot-Marie-Tooth disease, axonal, IIa 2II (also known as CMT2II) is a rare inherited disorder that affects the peripheral nerves, which are responsible for movement and sensation. Information in the trusted sources is limited, but it is known that this condition has been associated with genetic changes in the SLC12A6 gene. Because detailed definitions are not available from the provided sources, many aspects of this condition such as its full clinical picture and progression remain unclear. Further research and expert evaluation are needed to provide a complete understanding.

Information about symptoms is currently limited for this condition.

This condition appears to be linked to changes in the SLC12A6 gene, which is known to play a role in the normal function of peripheral nerves. However, more details about the exact genetic mechanisms and risk factors are not available in the current trusted sources. Associated genes include SLC12A6.

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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%	Symmetric or asymmetric
Gaze palsy	13%-30%	—
Horizontal nystagmus	20%	—
Facial weakness	34%-100%	Symmetric or asymmetric; may be assoc w/hemifacial atrophy Cognitive function
Normal	8%	Based on Taft clinical classification to stratify cognitive function in 53 persons1 Mild ID
Psychotic episodes	39% (25/64)	After age 15 yrs1
Scoliosis	86%	Average onset age 10.4 yrs
Pulmonary restrictive syndrome	Unknown	Related to scoliosis axonal loss affecting respiratory muscles2
Contractures	59%	MCP joint (flexion) contracture 50%
Seizures	17%	Generalized, absence, or focal seizures3
Tremor	25%	ID = intellectual disability; MCP = metacarpophalangeal Based on and 1. 2. 3.

Source: GeneReviews — "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	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention / special education / community social activities Psychotic
episodes	Obtain history of possible events.	When concerns, refer for psychiatric eval. Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of HMSN/ACC to facilitate medical personal decision making Family support resources
Manifestation/Concern	Treatment	Considerations/Other
Seizures	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Valproate may also be beneficial for behavioral problems.; Education of parents/caregivers1 Extraocular muscle
involvement	Standard treatment(s) per ophthalmologist	—
Musculoskeletal	Orthopedics / physical medicine rehab / PT OT	Regular physiotherapy to maximize mobility risk for later orthopedic complications (e.g., hand foot contractures, scoliosis); Walking aids incl canes or walkers when appropriate; Durable medical equipment positioning devices as needed (e.g.
Scoliosis	Orthopedics	Depending on degree of severity, scoliosis usually requires surgical correction. Pulmonary medicine
Intellectual disability	See .	—
Psychotic episodes	Psychiatric eval	Low-dose neuroleptics may be useful. Family support/ resources

Kisho

Charcot-Marie-Tooth disease, axonal, IIa 2II

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

PLA2G6

Therapies Under Investigation

Clinical Trials

Charcot-Marie-Tooth disease, axonal, IIa 2II

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Charcot-Marie-Tooth disease, axonal, IIa 2II?

What are the symptoms of Charcot-Marie-Tooth disease, axonal, IIa 2II?

What causes Charcot-Marie-Tooth disease, axonal, IIa 2II?

How is Charcot-Marie-Tooth disease, axonal, IIa 2II inherited?

How is Charcot-Marie-Tooth disease, axonal, IIa 2II diagnosed?

Are there treatments for Charcot-Marie-Tooth disease, axonal, IIa 2II?

What complications can arise from Charcot-Marie-Tooth disease, axonal, IIa 2II?

How might Charcot-Marie-Tooth disease, axonal, IIa 2II affect daily life?

What is the prognosis for someone with Charcot-Marie-Tooth disease, axonal, IIa 2II?

Are there any specialists recommended for Charcot-Marie-Tooth disease, axonal, IIa 2II?

Clinical Guidance

Explore clinical features

Differential Diagnosis

PLA2G6

Therapies Under Investigation

Clinical Trials