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hereditary neuromuscular disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary neuromuscular disease

MONDO:0100546

Overview

A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.

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

To date, more than 500 individuals have been identified with a pathogenic variant in the last exon 364 of TTN causing Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) [, , , , ]. The following description of the phenotypic features associated with this condition is based on these reports.

Table 2.

Features of UDM-TMD

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

Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) should be suspected in individuals with the following:

Distal myopathy. Ankle dorsiflexion weakness manifesting in the fourth to seventh decade
EMG abnormality. Profound myopathic changes in the anterior tibial muscle but preservation of the extensor brevis muscle

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 hereditary neuromuscular disease. 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 Udd distal myopathy – tibial muscular dystrophy (UDM-TMD), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with UDM-TMD

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 7.

Recommended Surveillance for Individuals with UDM-TMD

System/Concern | Evaluation | Frequency

Neuromuscular

| Evaluate disease progression need for rehabilitation orthotic treatment. | Every 1-4 yrs

Source: GeneReviews — "Udd Distal Myopathy – Tibial Muscular Dystrophy"

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 hereditary neuromuscular disease.

11 publications have been identified in PubMed for hereditary neuromuscular disease. Research spans Epidemiology / Natural History (27%), Diagnostic / Biomarker (18%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Disease patterns and progression	3	27%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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?

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GeneReviews

Differential Diagnosis

Genes and disorders in the differential diagnosis of Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) are listed in . Table 4. Genes of Interest in the Differential Diagnosis of UDM-TMD

Gene(s)	Disorder	MOI	Mean Age at Onset	Initial Muscle Group Involved	Serum Creatine Kinase Concentration	Muscle Biopsy	Comment
ACTN2	Distal actininopathy2 (OMIM 618655)	AD	15-35	Lower legs; later, also proximal limbs	3-8x	± rimmed vacuoles	—
ANO5	ANO5 muscle disease (distal anoctaminopathy)	AR	15-55	Asymmetric calf involvement	10x	Nonspecific dystrophic myopathology	May present w/similarities to Miyoshi myopathy; Calf involvement starting w/pain hypertrophy weakness atrophy; Nonspecific dystrophic myopathology w/scattered fiber necrosis; Evolves slowly; persons remain ambulant into late adulthood.
CRYAB	Alpha-B crystallinopathy (OMIM 608810)	AD	32-68	Distal limbs	1.5-2.5x	Rimmed vacuolar pathology	—
DES	Desminopathy (OMIM 601419)	ADAR	Juvenile / early adulthood	Distal limbs	Moderately	Consistent w/myofibrillar myopathy	DUX43SMCHD1
Facioscapulo-humeral muscular dystrophy	ADDigenic	20	Some may present w/ankle dorsiflexion weakness	1-4x	Nonspecific	—	—
DYSF	Miyoshi myopathy (See Dysferlinopathy.)	AR	Early adult	Posterior compartment in legs	50x	Myopathic changes	Manifests as difficulty climbing stairs toe-walking; progresses to other distal proximal muscles (as in LGMD2B)
FLNC	Distal actin binding domain (ABD)-filaminopathy (OMIM 609524)	AD	Early adulthood	Distal upper limbs calves	Normal or slightly	Scattered, grouped atrophic fibers	—
GNE	GNE-related myopathy (Nonaka distal myopathy)	AR	15-20	Anterior compartment in legs in toe extensors	10x	Rimmed vacuoles	Foot drop steppage gait w/progression to loss of ambulation after 12-15 yrs
LDB3	Zaspopathy4 (OMIM 609452)	AD	40	Anterior compartment in legs	Normal or slightly	Vacuolar myofibrillar myopathy	Weakness of ankle dorsiflexion followed by slow progression to calf muscles, finger wrist extensor muscles, intrinsic muscles of the hand; Proximal leg muscles eventually become involved.; Cardiomyopathy may occur at late stages.
MATR3	Vocal cord pharyngeal distal myopathy5 (See ALS Overview.)	AD	35-60	Lower legs hands; dysphonia, respiratory	1-8x	Rimmed vacuoles	MYH7
Laing distal myopathy	AD	20	Anterior compartment in legs neck flexors	Moderately	Type 1 fiber atrophy in tibial anterior muscles; disproportion in proximal muscles	Early-onset (usually age 5 yrs) weakness, 1st of dorsiflexors of the ankles great toes then of finger extensors; Weakness of neck flexors; After ...	—

Source: GeneReviews — "Udd Distal Myopathy – Tibial Muscular Dystrophy"

System/Concern	Evaluation	Comment
Neuromuscular	Muscle MRI	Can identify affected muscles w/high specificity EMG
Other	Consultation w/clinical geneticist /or genetic counselor	Treatment of Manifestations Table 6.
Treatment of Manifestations in Individuals with UDM-TMD Manifestation/Concern	Treatment	Considerations/Other Foot drop
(typical)	Orthotic devices	Foot drop
(severe)	Tibial posterior tendon transposition	Can be performed in patients in their 40s 50s to replace lost function of anterior tibial muscle long toe extensor muscles Surveillance Table 7.
Recommended Surveillance for Individuals with UDM-TMD System/Concern	Evaluation	Frequency
Neuromuscular	Evaluate disease progression need for rehabilitation orthotic treatment.	Every 1-4 yrs Agents/Circumstances to Avoid Heavy muscle force training of weak muscles should be avoided. Evaluation of Relatives at Risk See for issues related to testing of at-risk relatives for genetic counseling purposes. Search ClinicalTrials.

Kisho

hereditary neuromuscular disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neuromuscular

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

hereditary neuromuscular disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neuromuscular

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications