Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proxima...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
The limited documentation surrounding LGMD1G is primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This scarcity makes systematic clinical studies challenging, and the genetic basis was only recently identified, meaning ongoing clinical characterization is still needed. As a result, many patients may feel isolated in their experiences.
To navigate your condition effectively, consider seeking a neurologist with expertise in muscular dystrophies, particularly those specializing in hereditary forms. Genetic counseling may also be beneficial to understand the implications of the HNRNPDL gene mutation for you and your family. While there are currently no identified patient organizations for LGMD1G, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide further information and support. Additionally, inquire about any natural history studies or registries that may be available for individuals with LGMD1G.
Currently, there are no orphan drug designations for LGMD1G, but there is one active clinical trial that may provide opportunities for participation. You can explore ongoing research and potential trial eligibility by visiting the ClinicalTrials.gov search page for autosomal dominant limb-girdle muscular dystrophy type 1G: https://clinicaltrials.gov/search?cond=autosomal%20dominant%20limb-girdle%20muscular%20dystrophy%20type%201G. Participation in clinical trials can be a way to access cutting-edge therapies and contribute to research that may benefit future patients.
Actionable guidance for navigating care for autosomal dominant limb-girdle muscular dystrophy type 1G
To navigate your condition effectively, consider seeking a neurologist with expertise in muscular dystrophies, particularly those specializing in hereditary forms. Genetic counseling may also be beneficial to understand the implications of the HNRNPDL gene mutation for you and your family. While there are currently no identified patient organizations for LGMD1G, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide further information and support. Additionally, inquire about any natural history studies or registries that may be available for individuals with LGMD1G.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
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