What is Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

Information about overview is currently limited for this condition.

What are the symptoms of Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

Information about symptoms is currently limited for this condition.

What causes Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

Genetic factors appear to play a role in Charcot-Marie-Tooth disease, demyelinating, IIA 1H. Available evidence notes a link with the FBLN5 gene. More detailed information about other causes and risk factors is currently limited. Associated genes include FBLN5.

How is Charcot-Marie-Tooth disease, demyelinating, IIA 1H inherited?

Charcot-Marie-Tooth disease, demyelinating, IIA 1H 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, demyelinating, IIA 1H diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

Information about treatment is currently limited for this condition.

What complications can arise from Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

Information about complications related to Charcot-Marie-Tooth disease, demyelinating, IIA 1H is currently limited. However, patients may experience muscle weakness and difficulties with movement, which can lead to falls or injuries. It's important to monitor any changes in symptoms and discuss them with a healthcare provider.

How does Charcot-Marie-Tooth disease, demyelinating, IIA 1H affect daily life?

Daily life for someone with Charcot-Marie-Tooth disease, demyelinating, IIA 1H can be impacted by muscle weakness and coordination issues. This may make activities like walking, running, or climbing stairs more challenging. Patients may need to adapt their routines and use assistive devices to help with mobility.

What is the life expectancy for someone with Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

Information about life expectancy for Charcot-Marie-Tooth disease, demyelinating, IIA 1H is currently limited. Generally, many individuals with this condition can lead a normal life span, but the disease may affect their quality of life due to symptoms. It's essential to have regular check-ups to manage the condition effectively.

Should families consider genetic counseling for Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

Yes, families may want to consider genetic counseling for Charcot-Marie-Tooth disease, demyelinating, IIA 1H. Since genetic factors play a role in this condition, a genetic counselor can provide information about inheritance patterns and risks for future children. This can help families make informed decisions about family planning.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Charcot-Marie-Tooth disease, demyelinating, IIA 1H (CMT1H) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Arms and legs	4	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Distal upper limb amyotrophy
Muscles	2	Distal lower limb muscle weakness, Distal upper limb muscle weakness
Eyes	1	Macular degeneration
Skin	1	Hyperextensible skin

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

Suggestive Findings

FBLN5-related cutis laxa should be suspected in individuals with the following clinical features:

Cutis laxa
Pulmonary emphysema
Arterial involvement (e.g., peripheral pulmonary artery stenosis, supravalvar aortic stenosis)
Inguinal hernias
Hollow viscus diverticula (e.g., intestine, bladder)
Pyloric stenosis

Establishing the Diagnosis

The diagnosis of FBLN5-related cutis laxa is established in a proband with the above and biallelic pathogenic (or likely pathogenic) variants in FBLN5 (autosomal recessive FBLN5-related cutis laxa) or a heterozygous pathogenic (or likely pathogenic) variant in FBLN5 (autosomal dominant FBLN5-related cutis laxa) identified by molecular genetic testing .

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

GeneReviews

Differential Diagnosis

Other disorders characterized by cutis laxa are summarized in . EFEMP2-related cutis laxa (ARCL1B). EFEMP2-related cutis laxa is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems. The cutis laxa and emphysema are similar in FBLN4- or FBLN5-related cutis laxa; however, to date, the diaphragmatic changes and arterial aneurysms seem more predominant in EFEMP2-related cutis laxa. ATP6V0A2-related cutis laxa (ARCL2A) spans a phenotypic spectrum that includes Debr-type cutis laxa at the severe end and wrinkly skin syndrome at the mild end.

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

Genetic testing for FBLN5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Charcot-Marie-Tooth disease, demyelinating, IIA 1H has been reported in the published literature.

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, demyelinating, IIA 1H. The disease remains an area of unmet medical need.

Gene therapy approaches for Charcot-Marie-Tooth disease, demyelinating, IIA 1H have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with FBLN5-related cutis laxa, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with FBLN5-Related Cutis Laxa

System/Concern	Evaluation	Comment
Cardiovascular	Echocardiogram	Consider pulmonary vessel angiogram if clinically indicated.
Renal	Kidney ultrasound exam	Consider voiding cystoureterogram, given potential presence of urethral diverticula; catheterization should be done carefully. IV pyelogram may be an alternative.
Gastrointestinal	Exam for inguinal hernia	Barium enema if clinically indicated
Other	Consultation w/clinical geneticist /or genetic counselor	IV = intravenous Treatment of Manifestations Table 4. Treatment of Manifestations in Individuals with FBLN5-Related Cutis Laxa Manifestation/Concern

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

Clinical Trials

View trials for Charcot-Marie-Tooth disease, demyelinating, IIA 1H

Explore Trials

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Charcot-Marie-Tooth disease, demyelinating, IIA 1H.

100 publications have been identified in PubMed for Charcot-Marie-Tooth disease, demyelinating, IIA 1H. Kisho has analyzed 51 by research type. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (10%), and Other (8%).

Research Type	Count	% of Total
Research summaries	36	71%
Laboratory research	5	10%
Other research	4	8%
Disease patterns and progression	4	8%
Testing and diagnosis research	1	2%
New treatment approaches	1	2%

Recent Publications

Miura M (2026). [PMID: 42151388](https://pubmed.ncbi.nlm.nih.gov/42151388/). *Sci Rep*. [Other]
Jiang F (2025). [PMID: 40649951](https://pubmed.ncbi.nlm.nih.gov/40649951/). *Int J Mol Sci*. [Review / Meta-Analysis]
Antropoli A (2025). [PMID: 39603590](https://pubmed.ncbi.nlm.nih.gov/39603590/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Sadeghi E (2025). [PMID: 39426529](https://pubmed.ncbi.nlm.nih.gov/39426529/). *Surv Ophthalmol*. [Review / Meta-Analysis]
Butovsky O (2025). [PMID: 40324382](https://pubmed.ncbi.nlm.nih.gov/40324382/). *Immunity*. [Review / Meta-Analysis]
Torkashvand A (2025). [PMID: 39854159](https://pubmed.ncbi.nlm.nih.gov/39854159/). *Curr Eye Res*. [Review / Meta-Analysis]
Foster E (2025). [PMID: 39930165](https://pubmed.ncbi.nlm.nih.gov/39930165/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
He Y (2025). [PMID: 40251333](https://pubmed.ncbi.nlm.nih.gov/40251333/). *Sci Rep*. [Gene Therapy / Novel Therapeutics]
Bhandari SK (2025). [PMID: 41516080](https://pubmed.ncbi.nlm.nih.gov/41516080/). *Int J Mol Sci*. [Review / Meta-Analysis]
Charbel Issa P (2025). [PMID: 39820891](https://pubmed.ncbi.nlm.nih.gov/39820891/). *Klin Monbl Augenheilkd*. [Review / Meta-Analysis]

Kisho

Charcot-Marie-Tooth disease, demyelinating, IIA 1H

Overview

Clinical Presentation

Clinical Guidance

Autosomal Recessive FBLN5-Related Cutis Laxa

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Charcot-Marie-Tooth disease, demyelinating, IIA 1H

Overview

Clinical Presentation

Clinical Guidance

Autosomal Recessive FBLN5-Related Cutis Laxa

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

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, demyelinating, IIA 1H?

What are the symptoms of Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

What causes Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

How is Charcot-Marie-Tooth disease, demyelinating, IIA 1H inherited?

How is Charcot-Marie-Tooth disease, demyelinating, IIA 1H diagnosed?

Are there treatments for Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

What complications can arise from Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

How does Charcot-Marie-Tooth disease, demyelinating, IIA 1H affect daily life?

What is the life expectancy for someone with Charcot-Marie-Tooth disease, demyelinating, IIA 1H?

Should families consider genetic counseling for Charcot-Marie-Tooth disease, demyelinating, IIA 1H?