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

metabolic myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

metabolic myopathy

MONDO:0020123

Overview

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

The phenotypic spectrum of CHCHD10-related disorders is broad and can include any of the following alone or in any combination: mitochondrial myopathy, amyotrophic lateral sclerosis, frontotemporal dementia (FTD), late-onset spinal motor neuronopathy, and axonal Charcot-Marie-Tooth neuropathy. Cerebellar ataxia may also be found in combination with these disorders, but not as the sole neurologic manifestation. To date, approximately 100 individuals have been identified with a pathogenic variant in CHCHD10 [, , , ]. The following description of the phenotypes associated with this condition is based on these reports.

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

A CHCHD10-related disorder should be suspected in an individual with clinical findings of a mitochondrial myopathy, amyotrophic lateral sclerosis, frontotemporal dementia, late-onset spinal motor neuronopathy, or axonal Charcot-Marie-Tooth neuropathy, especially when the family history of these diverse phenotypes is consistent with autosomal dominant inheritance.

Clinical Findings

Mitochondrial myopathy. Signs of muscle weakness (proximal, axial, and/or facial, including ptosis), amyotrophy, or symptoms that suggest respiratory chain dysfunction, such as exercise intolerance Amyotrophic lateral sclerosis (ALS).

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 metabolic myopathy. The disease remains an area of unmet medical need.

Gene therapy approaches for metabolic myopathy have been reported in the published literature.

GeneReviews

Management Guidelines

Consensus clinical management recommendations for CHCHD10-related disorders have not been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with a CHCHD10-related disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 4. Recommended Surveillance for Individuals with CHCHD10-Related Disorders

System/Concern

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 metabolic myopathy.

56 publications have been identified in PubMed for metabolic myopathy. Research spans Case Report / Case Series (34%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	19	34%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98486

GARD

Genetic and Rare Diseases Info Center

GARD:19472

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

metabolic myopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Neurologic

Neuropsychiatric

Pulmonary

Hearing

Nutrition

Clinical Guidance

Clinical Trials

Recent Publications

Latest News & Developments

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy.

metabolic myopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Neurologic

Neuropsychiatric

Pulmonary

Hearing

Nutrition

Clinical Guidance

Clinical Trials

Recent Publications

Latest News & Developments

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy.