Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness init...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on LGMD1H is limited primarily due to the rarity of the condition, which affects fewer individuals, making comprehensive clinical studies challenging. Additionally, the genetic basis of this subtype has not yet been identified, leading to ongoing efforts in clinical characterization. As research progresses, more information may become available, providing hope for better understanding and management of this condition.
The clinical features of LGMD1H include proximal muscle weakness that progresses slowly over time. Patients typically present with weakness in the lower limbs, which may eventually extend to the upper limbs. Muscle hypotrophy is common, particularly in the limb-girdle muscles, and calf hypertrophy may also be observed. Reflexes are often diminished (hyporeflexia), and serum creatine kinase levels are elevated, indicating muscle damage. Centrally nucleated skeletal muscle fibers can be present in 5-29% of muscle biopsies.
To navigate your condition effectively, consider consulting a neurologist with expertise in muscular dystrophies, particularly those specializing in limb-girdle types. While there are currently no identified patient organizations for LGMD1H, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Additionally, inquire about participation in any available clinical trials, which may offer access to cutting-edge research and treatment options.
Currently, there is one active clinical trial related to autosomal dominant limb-girdle muscular dystrophy type 1H. This trial may provide valuable insights into the condition and potential management strategies. You can find more information about ongoing trials at ClinicalTrials.gov by searching for 'autosomal dominant limb-girdle muscular dystrophy type 1H'.
Actionable guidance for navigating care for autosomal dominant limb-girdle muscular dystrophy type 1H
To navigate your condition effectively, consider consulting a neurologist with expertise in muscular dystrophies, particularly those specializing in limb-girdle types. While there are currently no identified patient organizations for LGMD1H, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Additionally, inquire about participation in any available clinical trials, which may offer access to cutting-edge research and treatment options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on LGMD1H is limited primarily due to the rarity of the condition, which affects fewer individuals, making comprehensive clinical studies challenging. Additionally, the genetic basis of this subtype has not yet been identified, leading to ongoing efforts in clinical characterization. As research progresses, more information may become available, providing hope for better understanding and management of this condition.
The clinical features of LGMD1H include proximal muscle weakness that progresses slowly over time. Patients typically present with weakness in the lower limbs, which may eventually extend to the upper limbs. Muscle hypotrophy is common, particularly in the limb-girdle muscles, and calf hypertrophy may also be observed. Reflexes are often diminished (hyporeflexia), and serum creatine kinase levels are elevated, indicating muscle damage. Centrally nucleated skeletal muscle fibers can be present in 5-29% of muscle biopsies.
To navigate your condition effectively, consider consulting a neurologist with expertise in muscular dystrophies, particularly those specializing in limb-girdle types. While there are currently no identified patient organizations for LGMD1H, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Additionally, inquire about participation in any available clinical trials, which may offer access to cutting-edge research and treatment options.
Currently, there is one active clinical trial related to autosomal dominant limb-girdle muscular dystrophy type 1H. This trial may provide valuable insights into the condition and potential management strategies. You can find more information about ongoing trials at ClinicalTrials.gov by searching for 'autosomal dominant limb-girdle muscular dystrophy type 1H'.
Actionable guidance for navigating care for autosomal dominant limb-girdle muscular dystrophy type 1H
To navigate your condition effectively, consider consulting a neurologist with expertise in muscular dystrophies, particularly those specializing in limb-girdle types. While there are currently no identified patient organizations for LGMD1H, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Additionally, inquire about participation in any available clinical trials, which may offer access to cutting-edge research and treatment options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on LGMD1H is limited primarily due to the rarity of the condition, which affects fewer individuals, making comprehensive clinical studies challenging. Additionally, the genetic basis of this subtype has not yet been identified, leading to ongoing efforts in clinical characterization. As research progresses, more information may become available, providing hope for better understanding and management of this condition.
The clinical features of LGMD1H include proximal muscle weakness that progresses slowly over time. Patients typically present with weakness in the lower limbs, which may eventually extend to the upper limbs. Muscle hypotrophy is common, particularly in the limb-girdle muscles, and calf hypertrophy may also be observed. Reflexes are often diminished (hyporeflexia), and serum creatine kinase levels are elevated, indicating muscle damage. Centrally nucleated skeletal muscle fibers can be present in 5-29% of muscle biopsies.
To navigate your condition effectively, consider consulting a neurologist with expertise in muscular dystrophies, particularly those specializing in limb-girdle types. While there are currently no identified patient organizations for LGMD1H, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Additionally, inquire about participation in any available clinical trials, which may offer access to cutting-edge research and treatment options.
Currently, there is one active clinical trial related to autosomal dominant limb-girdle muscular dystrophy type 1H. This trial may provide valuable insights into the condition and potential management strategies. You can find more information about ongoing trials at ClinicalTrials.gov by searching for 'autosomal dominant limb-girdle muscular dystrophy type 1H'.
Actionable guidance for navigating care for autosomal dominant limb-girdle muscular dystrophy type 1H
To navigate your condition effectively, consider consulting a neurologist with expertise in muscular dystrophies, particularly those specializing in limb-girdle types. While there are currently no identified patient organizations for LGMD1H, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Additionally, inquire about participation in any available clinical trials, which may offer access to cutting-edge research and treatment options.
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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