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autosomal recessive titinopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive titinopathy

MONDO:0100493

Also known as:TTN-related myopathy, autosomal recessive

Overview

Autosomal recessive form of TTN-related myopathy.

ResearchLimited published research (8 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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of life .

Presentation

The usual presenting findings are gait disturbance relating to distal leg weakness or nocturnal respiratory symptoms due to respiratory muscle weakness. Weakness eventually generalizes and affects both proximal and distal muscles.

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

Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy with typical onset in adulthood. The diagnosis of this rare disorder is not supported by any formal diagnostic criteria at this time.

Suggestive Findings

Diagnosis of hereditary myopathy with early respiratory failure (HMERF) should be suspected in individuals with the following:

Source: GeneReviews — "Hereditary Myopathy with Early Respiratory Failure"

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 autosomal recessive titinopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with hereditary myopathy with early respiratory failure (HMERF), 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 HMERF

Prognosis

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

GeneReviews

Surveillance Guidelines

No specific guidelines are in place for surveillance of this disorder; general recommendations are provided in .

Table 5.

Recommended Surveillance for Individuals with HMERF

System/Concern | Evaluation | Frequency

Neuromuscular

| Reassessment of muscle strength clinical status w/neurologist who can coordinate any additional required services | Annually

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 autosomal recessive titinopathy.

8 publications have been identified in PubMed for autosomal recessive titinopathy. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

Alghamdi OA (2025). [PMID: 40487049](https://pubmed.ncbi.nlm.nih.gov/40487049/). *International medical case reports journal*. [Case Report / Case Series]
Haliloğlu G (2025). [PMID: 40356365](https://pubmed.ncbi.nlm.nih.gov/40356365/). *Journal of neuromuscular diseases*. [Epidemiology / Natural History]
Meyer AP (2024). [PMID: 38050027](https://pubmed.ncbi.nlm.nih.gov/38050027/). *Journal of medical genetics*. [Case Report / Case Series]
Õunap K (2024). [PMID: 39807212](https://pubmed.ncbi.nlm.nih.gov/39807212/). *Neurology. Genetics*. [Case Report / Case Series]
Perna A (2024). [PMID: 38430701](https://pubmed.ncbi.nlm.nih.gov/38430701/). *Neuromuscular disorders : NMD*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 7:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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GeneReviews

Differential Diagnosis

Table 2. Disorders to Consider in the Differential Diagnosis of Hereditary Myopathy with Early Respiratory Failure

Disorder	Gene(s)	MOI	Clinical Features of Differential Disorder
Amyotrophic lateral sclerosis	30 genes1	ADARXL	Presents w/respiratory failure in ~3% of cases2
Characteristic neurophysiologic abnormalities Facioscapulohumeral muscular dystrophy (FSHD)	DNMT3BSMCHD13	AD	Typically presents w/weakness of facial proximal arm muscles (esp shoulder hip girdle); Highly variable disease severity
GAA	AR	Proximal muscle weakness; Respiratory insufficiency; Early diaphragmatic weakness while still ambulant	Pathologic findings
Muscle MRI abnormalities Limb-girdle muscular dystrophy type 2(LGMD2; OMIM PS253600)	~29 genes4	AR	Weakness wasting restricted to limb musculature (proximal distal); Subtypes LGMD2I (FKRP) the sarcogylcanopathies (LGMD2C-LGMD2F) affect the respiratory muscles early in disease course.5
PYROXD1	ADAR	Significant overlap in clinical, MRI, pathologic features w/HMERF; some individuals w/HMERF meet diagnostic criteria for MFM on muscle biopsy.	—
Some pathology findings may be specific to HMERF (necklace inclusions, cheetah-skin aggregates). Myotonic dystrophy type 1(DM1)	DMPK8	AD	Highly variable muscle disease; May present w/distal muscle weakness respiratory muscle involvement; Variable multisystem features incl: myotonia; cataracts; cognitive deficits; cardiac arrhythmia; endocrine GI dysfunction Oculopharyn-godistal myopathy 1 (OMIM 164310)
LRP12	ADAR	Early diaphragmatic weakness while still ambulant	Ocular, facial, pharyngeal weakness
Myasthenia gravis	NA	NA	May present w/respiratory failure skeletal muscle weakness9

Source: GeneReviews — "Hereditary Myopathy with Early Respiratory Failure"

System/Concern	Evaluation	Comment
Neuromuscular	Neuromuscular assessment by neurologist w/expertise in inherited muscle disorders	PT
Respiratory	Assess pulmonary function need for nocturnal ventilator support.	Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	To incl genetic counseling Social services consultation
Treatment of Manifestations in Individuals with HMERF Manifestation/Concern	Treatment	Considerations/Other
Distal leg weakness	Ankle-foot orthoses	To optimize independent ambulation Other mobility aids such as canes, walkers, or wheelchairs
Inactivity	Exercises activities suggested by PT consultation	To prevent continued loss of physical function
Nocturnal hypoventilation	Noninvasive ventilation w/BiPAP or CPAP	—
Respiratory failure	Mechanical ventilatory support as needed	—
susceptibility to respiratory tract infections	Influenza vaccination	—
Gradually progressive nature of this disease	OT social services support	BiPAP = bilevel positive airway pressure; CPAP = continuous positive airway pressure; OT = occupational therapy; PT = physical therapy Surveillance No specific guidelines are in place for surveillance of this disorder; general recommendations are provided in . Table 5.
Recommended Surveillance for Individuals with HMERF System/Concern	Evaluation	Frequency
Neuromuscular	Reassessment of muscle strength clinical status w/neurologist who can coordinate any additional required services	Annually
Respiratory	Pulmonary function testing	Every 6-12 mos or guided by individual findings Evaluation of Relatives at Risk See for issues related to testing of at-risk relatives for genetic counseling purposes. Information is insufficient to determine if particular issues in HMERF relate to pregnancy.

Kisho

autosomal recessive titinopathy

Overview

Clinical Presentation

Clinical Guidance

Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neuromuscular

Research Landscape

Recent Publications

Medical References

Questions for Your Care Team

Questions for Your Care Team

Muscle Findings

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Respiratory

autosomal recessive titinopathy

Overview

Clinical Presentation

Clinical Guidance

Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neuromuscular

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Muscle Findings

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Respiratory