Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for spinal muscular atrophy, facioscapulohumeral type is limited primarily due to its rarity and the challenges associated with studying conditions that affect fewer individuals. The genetic basis of this condition has not been clearly defined, which complicates the clinical characterization and understanding of its features. Ongoing research may eventually provide more clarity and insights.
To navigate your care effectively, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with hereditary conditions. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in any ongoing clinical trials related to spinal muscular atrophy, facioscapulohumeral type, to stay informed about new developments and potential treatment options.
There are currently three orphan drugs designated for spinal muscular atrophy, facioscapulohumeral type, including pegylated insulin-like growth factor 1 (PEG-IGF1) and a recombinant adeno-associated viral vector. Additionally, there are four active clinical trials investigating various aspects of the condition. For more information on these trials, you can visit ClinicalTrials.gov at this link: https://clinicaltrials.gov/search?cond=spinal%20muscular%20atrophy%2C%20facioscapulohumeral%20type.
Actionable guidance for navigating care for spinal muscular atrophy, facioscapulohumeral type
To navigate your care effectively, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with hereditary conditions. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in any ongoing clinical trials related to spinal muscular atrophy, facioscapulohumeral type, to stay informed about new developments and potential treatment options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for spinal muscular atrophy, facioscapulohumeral type is limited primarily due to its rarity and the challenges associated with studying conditions that affect fewer individuals. The genetic basis of this condition has not been clearly defined, which complicates the clinical characterization and understanding of its features. Ongoing research may eventually provide more clarity and insights.
To navigate your care effectively, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with hereditary conditions. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in any ongoing clinical trials related to spinal muscular atrophy, facioscapulohumeral type, to stay informed about new developments and potential treatment options.
There are currently three orphan drugs designated for spinal muscular atrophy, facioscapulohumeral type, including pegylated insulin-like growth factor 1 (PEG-IGF1) and a recombinant adeno-associated viral vector. Additionally, there are four active clinical trials investigating various aspects of the condition. For more information on these trials, you can visit ClinicalTrials.gov at this link: https://clinicaltrials.gov/search?cond=spinal%20muscular%20atrophy%2C%20facioscapulohumeral%20type.
Actionable guidance for navigating care for spinal muscular atrophy, facioscapulohumeral type
To navigate your care effectively, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with hereditary conditions. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in any ongoing clinical trials related to spinal muscular atrophy, facioscapulohumeral type, to stay informed about new developments and potential treatment options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for spinal muscular atrophy, facioscapulohumeral type is limited primarily due to its rarity and the challenges associated with studying conditions that affect fewer individuals. The genetic basis of this condition has not been clearly defined, which complicates the clinical characterization and understanding of its features. Ongoing research may eventually provide more clarity and insights.
To navigate your care effectively, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with hereditary conditions. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in any ongoing clinical trials related to spinal muscular atrophy, facioscapulohumeral type, to stay informed about new developments and potential treatment options.
There are currently three orphan drugs designated for spinal muscular atrophy, facioscapulohumeral type, including pegylated insulin-like growth factor 1 (PEG-IGF1) and a recombinant adeno-associated viral vector. Additionally, there are four active clinical trials investigating various aspects of the condition. For more information on these trials, you can visit ClinicalTrials.gov at this link: https://clinicaltrials.gov/search?cond=spinal%20muscular%20atrophy%2C%20facioscapulohumeral%20type.
Actionable guidance for navigating care for spinal muscular atrophy, facioscapulohumeral type
To navigate your care effectively, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with hereditary conditions. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in any ongoing clinical trials related to spinal muscular atrophy, facioscapulohumeral type, to stay informed about new developments and potential 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 31, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. 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.