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early-onset myopathy with fatal cardiomyopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset myopathy with fatal cardiomyopathy

MONDO:0012714

Also known as:Salih myopathyEOMFCSALMY

Overview

GeneticsAutosomal recessive · TTN (chr 2)

ResearchLimited published research (4 articles)

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: Myopathy, Difficulty climbing stairs, Motor delay, and Arrhythmia and others; and very common findings: Sudden cardiac death. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Myopathy, Difficulty climbing stairs, Weakness of facial musculature

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.

TTN function has not been fully characterized.

Early-onset myopathy with fatal cardiomyopathy is associated with mutations in the TTN gene on chromosome 2.

GeneReviews

Clinical Guidance

No exact genotype-phenotype correlations are known. There are individuals with biallelic TTN truncating variants in exons 359, 360, and 361 without a fatal cardiomyopathy.

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

No consensus clinical diagnostic criteria for Salih myopathy have been published.

Suggestive Findings

Salih myopathy should be suspected in individuals with the following clinical, laboratory, electrophysiologic, imaging, and histopathology findings and family history, although none of the following findings is specific for Salih myopathy and the phenotype overlaps with other autosomal recessive congenital titinopathies.

Clinical

Source: GeneReviews — "Salih Myopathy"

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 early-onset myopathy with fatal cardiomyopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Salih myopathy have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Salih myopathy, 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

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Salih Myopathy: Recommended Surveillance

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 early-onset myopathy with fatal cardiomyopathy.

5 publications have been identified in PubMed for early-onset myopathy with fatal cardiomyopathy. Research spans Case Report / Case Series (100%).

Recent Publications

Yıldız M (2026). [PMID: 41988830](https://pubmed.ncbi.nlm.nih.gov/41988830/). *Pediatr Int*. [Case Report / Case Series]
Alghamdi OA (2025). [PMID: 40487049](https://pubmed.ncbi.nlm.nih.gov/40487049/). *Int Med Case Rep J*. [Case Report / Case Series]
León P (2024). [PMID: 38938651](https://pubmed.ncbi.nlm.nih.gov/38938651/). *Front Cardiovasc Med*. [Case Report / Case Series]
Fan L (2024). [PMID: 38937733](https://pubmed.ncbi.nlm.nih.gov/38937733/). *BMC Med Genomics*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611705

Orphanet

European rare disease database

Orphanet:289377

GARD

Genetic and Rare Diseases Info Center

GARD:17324

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?

← Back to All Diseases

GeneReviews

Differential Diagnosis

Genetic disorders with early-onset muscle involvement in the differential diagnosis of Salih myopathy are listed in . Table 3. Early-Onset Genetic Muscle Disorders of Interest in the Differential Diagnosis of Salih Myopathy

Gene(s)	Disorder	MOI	Clinical Features of Disorder
DMD	Duchenne muscular dystrophy (See Dystrophinopathies.)	XL	Usually manifests in early childhood w/delayed milestones; Subclinical or clinical cardiac involvement presents in ~90% of affected persons.
FKRP	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5 (previously LGMD2I; OMIM 607155)	AR	Onset: age 1 yr; In some, infantile CM; Muscle weakness calf muscle hypertrophy
Fukuyama congenital muscular dystrophy	AR	Muscle weakness typically begins at birth or in early infancy.; Children present w/delay or arrest of gross motor development.; Dilated CM	Intellectual disability; Epilepsy; Variable eye malformations; Brain MRI: CNS malformations LAMA2
LAMA2 muscular dystrophy	AR	Congenital hypotonia; Delayed or arrested motor milestones; Progressive diffuse joint contractures; Spinal rigidity; Usually normal intellect; ~1/3 of persons develop left ventricular dysfunction; Myopathic facies; ± calf muscle hypertrophy	Brain MRI: diffuse white matter signal abnormalities
LMNA	LMNA-related congenital muscular dystrophy2	AD	Infantile hypotonia weakness of axial-cervical muscles; Dilated CM
SELENON	Classic multiminicore disease3	ARAD	Neonatal hypotonia early-onset motor delay; Weakness of trunk neck flexors pelvic shoulder girdle muscles; Affected persons are usually ambulatory.; Facial muscle weakness ranging from absent to severe; Serum CK: may be slightly; Similar skeletal muscle histology
SGCD	Sarcoglycanopathies4	AR	Onset: age 3-15 yrs; In some, delayed walking frequent falling; CM; EKG: left anterior fascicular block

Source: GeneReviews — "Salih Myopathy"

Kisho

early-onset myopathy with fatal cardiomyopathy

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Musculoskeletal

Pulmonary

Cardiac

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

early-onset myopathy with fatal cardiomyopathy

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

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

Clinical Guidance

Explore clinical features

Differential Diagnosis

Musculoskeletal

Pulmonary

Cardiac

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials