Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for familial hypertrophic cardiomyopathy, type 31, is limited primarily due to its rarity and the absence of identified genetic factors. Conditions like this often affect a small number of individuals, making systematic clinical studies challenging. Additionally, the phenotypic variability can complicate the characterization of the disease, leading to gaps in understanding its full clinical spectrum.
The clinical picture of familial hypertrophic cardiomyopathy, type 31, includes several key features: centrally nucleated skeletal muscle fibers and proximal muscle weakness, both of which are always present. Patients also exhibit increased endomysial connective tissue and reduced forced vital capacity, which may lead to respiratory complications. Myopathy, spinal rigidity, hyporeflexia, myocardial fibrosis, and left ventricular hypertrophy are consistently observed, indicating a complex interplay between skeletal and cardiac muscle dysfunction.
To navigate your care effectively, consider consulting a cardiologist with expertise in familial cardiomyopathies. They can provide specialized insights into managing your condition. Additionally, genetic counseling may be beneficial, even without identified genes, to discuss potential implications for family members. Resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide further guidance. While there are currently no patient organizations specifically for this condition, participating in clinical trials may also offer valuable support and information.
Currently, there are no orphan drugs designated for familial hypertrophic cardiomyopathy, type 31. However, there is one active clinical trial that may offer insights into potential treatment options or management strategies. For more information on this trial, you can visit ClinicalTrials.gov and search for 'cardiomyopathy, familial hypertrophic, 31'. This ongoing research represents a hopeful avenue for patients and families affected by this condition.
Actionable guidance for navigating care for cardiomyopathy, familial hypertrophic, 31
To navigate your care effectively, consider consulting a cardiologist with expertise in familial cardiomyopathies. They can provide specialized insights into managing your condition. Additionally, genetic counseling may be beneficial, even without identified genes, to discuss potential implications for family members. Resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide further guidance. While there are currently no patient organizations specifically for this condition, participating in clinical trials may also offer valuable support and information.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for familial hypertrophic cardiomyopathy, type 31, is limited primarily due to its rarity and the absence of identified genetic factors. Conditions like this often affect a small number of individuals, making systematic clinical studies challenging. Additionally, the phenotypic variability can complicate the characterization of the disease, leading to gaps in understanding its full clinical spectrum.
The clinical picture of familial hypertrophic cardiomyopathy, type 31, includes several key features: centrally nucleated skeletal muscle fibers and proximal muscle weakness, both of which are always present. Patients also exhibit increased endomysial connective tissue and reduced forced vital capacity, which may lead to respiratory complications. Myopathy, spinal rigidity, hyporeflexia, myocardial fibrosis, and left ventricular hypertrophy are consistently observed, indicating a complex interplay between skeletal and cardiac muscle dysfunction.
To navigate your care effectively, consider consulting a cardiologist with expertise in familial cardiomyopathies. They can provide specialized insights into managing your condition. Additionally, genetic counseling may be beneficial, even without identified genes, to discuss potential implications for family members. Resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide further guidance. While there are currently no patient organizations specifically for this condition, participating in clinical trials may also offer valuable support and information.
Currently, there are no orphan drugs designated for familial hypertrophic cardiomyopathy, type 31. However, there is one active clinical trial that may offer insights into potential treatment options or management strategies. For more information on this trial, you can visit ClinicalTrials.gov and search for 'cardiomyopathy, familial hypertrophic, 31'. This ongoing research represents a hopeful avenue for patients and families affected by this condition.
Actionable guidance for navigating care for cardiomyopathy, familial hypertrophic, 31
To navigate your care effectively, consider consulting a cardiologist with expertise in familial cardiomyopathies. They can provide specialized insights into managing your condition. Additionally, genetic counseling may be beneficial, even without identified genes, to discuss potential implications for family members. Resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide further guidance. While there are currently no patient organizations specifically for this condition, participating in clinical trials may also offer valuable support and information.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for familial hypertrophic cardiomyopathy, type 31, is limited primarily due to its rarity and the absence of identified genetic factors. Conditions like this often affect a small number of individuals, making systematic clinical studies challenging. Additionally, the phenotypic variability can complicate the characterization of the disease, leading to gaps in understanding its full clinical spectrum.
The clinical picture of familial hypertrophic cardiomyopathy, type 31, includes several key features: centrally nucleated skeletal muscle fibers and proximal muscle weakness, both of which are always present. Patients also exhibit increased endomysial connective tissue and reduced forced vital capacity, which may lead to respiratory complications. Myopathy, spinal rigidity, hyporeflexia, myocardial fibrosis, and left ventricular hypertrophy are consistently observed, indicating a complex interplay between skeletal and cardiac muscle dysfunction.
To navigate your care effectively, consider consulting a cardiologist with expertise in familial cardiomyopathies. They can provide specialized insights into managing your condition. Additionally, genetic counseling may be beneficial, even without identified genes, to discuss potential implications for family members. Resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide further guidance. While there are currently no patient organizations specifically for this condition, participating in clinical trials may also offer valuable support and information.
Currently, there are no orphan drugs designated for familial hypertrophic cardiomyopathy, type 31. However, there is one active clinical trial that may offer insights into potential treatment options or management strategies. For more information on this trial, you can visit ClinicalTrials.gov and search for 'cardiomyopathy, familial hypertrophic, 31'. This ongoing research represents a hopeful avenue for patients and families affected by this condition.
Actionable guidance for navigating care for cardiomyopathy, familial hypertrophic, 31
To navigate your care effectively, consider consulting a cardiologist with expertise in familial cardiomyopathies. They can provide specialized insights into managing your condition. Additionally, genetic counseling may be beneficial, even without identified genes, to discuss potential implications for family members. Resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide further guidance. While there are currently no patient organizations specifically for this condition, participating in clinical trials may also offer valuable support and information.
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 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease