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Congenital muscular dystrophy (CMD) is defined in the packet as a muscular dystrophy characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration, abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. It records onset in the congenital, infantile and childhood categories. The packet also records a number of named subtypes, including muscle-eye-brain disease, Ullrich congenital muscular dystrophy, congenital merosin-deficient muscular dystrophy 1A and Bethlem myopathy, so the entry covers a group of related conditions. The packet gives a prevalence category of uncommon, with an estimate of 1 to 9 per 100,000 people.
No individual phenotypes with frequency annotations are recorded in the packet for this entry. The features available come from the disease definition: hypotonia, progressive muscle weakness and degeneration, abnormally fixed joints, spinal rigidity, and delayed motor milestones. The packet records congenital, infantile and childhood onset categories. Further findings, complications and severity ranges are not certified here.
The packet lists no genes and records no inheritance pattern or molecular mechanism for this entry, so the genetic basis is not characterized here. Cause-specific details for the listed subtypes are not supplied.
The packet does not contain diagnostic-methods information applicable to the entry as a whole, so specific tests and criteria are not certified here. No newborn-screening information is recorded.
Treatment coverage is not certified in this packet. It contains no foundational-therapy records, no applicable expert-review management text and no verified FDA-approved treatment records, which does not indicate that none exist. The packet records regulatory orphan designations for several investigational products for this indication but designation is not approval and does not indicate development status or availability.
9 trials found
Prognosis is not certified in this packet, which contains no natural-history text applicable to the entry as a whole.
According to ClinicalTrials.gov records in the packet, active studies related to this condition are present, most of them recruiting. Listed titles describe observational and natural-history studies, a clinical trial readiness study for dystroglycanopathies, and a neuromuscular disorders registry. The packet describes the interventions as medical devices, procedural interventions and other interventions, with an academic sponsor profile and no gene therapy trials flagged. Its publication digest indicates a literature dominated by case reports and case series. The packet lists a patient organization, Cure CMD, which maintains a registry. Active clinical trials for this condition are listed on ClinicalTrials.gov.
Data assembled from 6 of 12 sources · Last updated Nov 3, 2026, 2:30 PM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning congenital muscular dystrophy
Updated Sep 17, 2026
A new machine-readable database has been developed for genotype-phenotype analyses in rare diseases, using FKTN-related congenital muscular dystrophies as a prototype. This resource aims to enhance understanding and research in the field of rare genetic disorders.