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Ullrich congenital muscular dystrophy (UCMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Ullrich congenital muscular dystrophy

MONDO:0000355

Also known as:UCMDUllrich scleroatonic muscular dystrophyscleroatonic Ullrich disease

Overview

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

OnsetNEONATAL

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 very common findings: Abnormal palate morphology, Flexion contracture, Excessive outward curvature of the upper spine (kyphosis), and Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and others; and common findings: Generalized hypotonia, Micrognathia, Short neck, and Torticollis and others.

Organ System	Phenotype Count	Example Features
Muscles	11

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

Formal diagnostic criteria for collagen VI-related dystrophies (COL6-RDs) have not been established. The COL6-RDs are caused by a pathogenic variant(s) in COL6A1, COL6A2, or COL6A3 and represent a clinical spectrum including Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and intermediate COL6-RD, between Bethlem muscular dystrophy and UCMD. Note: Although these phenotypes are now recognized to comprise a continuum of overlapping phenotypes, the clinical designations are useful for providing a prognosis of future motor and pulmonary function and thus help to improve anticipatory clinical care.

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 Ullrich congenital muscular dystrophy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

Bethlem muscular dystrophy. To establish the extent of disease and needs in an individual diagnosed with Bethlem muscular dystrophy, 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 Bethlem Muscular Dystrophy

Prognosis

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

GeneReviews

Surveillance Guidelines

Bethlem muscular dystrophy

Respiratory function surveillance is of utmost importance, since unrecognized respiratory insufficiency is a leading cause of morbidity and mortality. Pulmonary function tests (PFTs) should be performed in both the upright (seated) and supine (lying down) positions at least annually to monitor the FVC. For FVC measurements of 60% predicted or lower, NIV in the form of BiPAP should be planned for and initiated during a polysomnogram – with pressures adjusted while CO2 is monitored – in order to ensure that BiPAP pressures provide adequate ventilation.

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 Ullrich congenital muscular dystrophy.

23 publications have been identified in PubMed for Ullrich congenital muscular dystrophy. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	6	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:24 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:75840

GARD

Genetic and Rare Diseases Info Center

GARD:4769

Questions for Your Care Team

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Kisho

Ullrich congenital muscular dystrophy

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

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

Clinical Guidance

Bethlem Muscular Dystrophy

Explore clinical features

Differential Diagnosis

Bethlem Muscular Dystrophy

Musculoskeletal

Pulmonary

Cardiology

Other

Therapies Under Investigation

Clinical Trials

Recent Publications

Ullrich congenital muscular dystrophy

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

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

Clinical Guidance

Bethlem Muscular Dystrophy

Explore clinical features

Differential Diagnosis

Bethlem Muscular Dystrophy

Musculoskeletal

Pulmonary

Cardiology

Other

Therapies Under Investigation

Clinical Trials

Recent Publications