Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2f
Disease Details
Family Health Simplified
- Description
- Autosomal recessive limb-girdle muscular dystrophy type 2F is a genetic disorder characterized by progressive weakness and wasting of the muscles around the hips and shoulders due to a deficiency in the protein dysferlin.
- Type
- Autosomal recessive limb-girdle muscular dystrophy type 2F is transmitted in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.
- Signs And Symptoms
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Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is characterized by the following signs and symptoms:
- **Muscle Weakness**: Predominantly affects the muscles around the hips and shoulders (limb-girdle area). This often begins in adolescence or early adulthood.
- **Difficulty Walking**: Progressive weakness may lead to difficulties in walking, frequent falls, and an abnormal gait.
- **Muscle Wasting**: Gradual loss of muscle mass, especially in the proximal muscles.
- **Elevated Creatine Kinase (CK) Levels**: Blood tests often show elevated levels of CK, an enzyme released by damaged muscles.
- **Joint Contractures**: Over time, some individuals may develop tightening of the joints, leading to limited movement.
- **Cardiopulmonary Complications**: Some patients may experience respiratory and heart-related issues as the disease progresses.
There are no specific findings listed under "nan." - Prognosis
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For autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F):
**Prognosis:** The progression of LGMD2F varies but generally involves a gradual decline in muscle strength and function. Symptoms typically begin in the late teens to early adulthood, leading to difficulty walking, muscle weakness, and sometimes respiratory complications. As the disease progresses, many affected individuals may require the use of a wheelchair. Cardiomyopathy can also develop, which may affect life expectancy. Regular monitoring and supportive treatments can help manage symptoms and improve quality of life. - Onset
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) typically has an onset in childhood or early adolescence. The progression of the disease can vary, but it generally leads to muscle weakness and wasting that primarily affects the hip and shoulder areas.
- Prevalence
- The prevalence of Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) is not well-defined, but it is considered to be very rare. Specific data on its occurrence is limited, highlighting the need for further research and more comprehensive genetic screening to establish accurate prevalence figures.
- Epidemiology
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a rare genetic disorder with a very low prevalence worldwide. It is caused by mutations in the sarcoglycan-delta (SGCD) gene. This specific type of muscular dystrophy is more common in certain populations with higher rates of consanguinity. However, due to its rarity, precise epidemiological data are limited.
- Intractability
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is generally considered intractable, meaning that it is not curable. Management focuses on supportive care to improve quality of life and slow disease progression.
- Disease Severity
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) is characterized by progressive muscle weakness, primarily affecting the muscles of the hips and shoulders. The onset and severity of the disease can vary, but it often begins in childhood or adolescence. As the disease progresses, patients may experience difficulty walking, climbing stairs, and lifting objects. The severity can range from mild to severe, with some individuals eventually requiring the use of a wheelchair. The course of the disease can be influenced by genetic and environmental factors, making it important to monitor and manage symptoms under the care of healthcare professionals.
- Healthcare Professionals
- Disease Ontology ID - DOID:0110280
- Pathophysiology
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is primarily caused by mutations in the gene encoding the protein gamma-sarcoglycan (SGCG), which is a component of the dystrophin-associated glycoprotein complex. This protein complex is crucial for maintaining the structural stability of muscle fiber membranes during contraction and relaxation. Mutations in SGCG disrupt the function of this complex, leading to muscle fiber damage, degeneration, and eventual muscle weakness and atrophy. The clinical manifestations primarily involve the proximal muscles of the pelvic and shoulder girdles.
- Carrier Status
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For autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F):
- **Carrier Status**: Individuals who carry one mutated copy of the gene associated with LGMD2F (usually the CAPN3 gene) are considered carriers. Carriers typically do not exhibit symptoms of the disease but can pass the mutated gene to their offspring. If both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit two mutated copies and be affected by the disease, a 50% chance the child will be a carrier, and a 25% chance the child will inherit two normal copies of the gene. - Mechanism
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Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is caused by mutations in the gene encoding the protein dysferlin (DYSF).
Mechanism: LGMD2F involves progressive muscle weakness primarily affecting the hip and shoulder girdle muscles. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the DYSF gene, one from each parent, to manifest the disease.
Molecular mechanisms: Dysferlin is crucial for muscle membrane repair. Mutations in the DYSF gene lead to a deficiency or malfunction of dysferlin, impairing the muscle cells' ability to repair membrane damage. This dysfunction results in muscle cell degeneration and the progressive muscle weakness observed in LGMD2F. - Treatment
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Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a rare genetic disorder characterized by progressive muscle weakness and wasting, primarily affecting the shoulder and hip areas.
Treatment:
1. **Supportive Care**: Physical therapy to maintain muscle strength and mobility.
2. **Medications**: Corticosteroids may be prescribed to slow muscle degeneration.
3. **Assistive Devices**: Use of braces, wheelchairs, or other aids.
4. **Respiratory Support**: Monitoring and management of respiratory function, possibly including non-invasive ventilation.
5. **Cardiac Care**: Regular cardiac check-ups and treatments as needed since cardiac involvement can occur.
Currently, there's no cure for LGMD2F, and treatment focuses on managing symptoms and improving quality of life. - Compassionate Use Treatment
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Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a rare genetic disorder affecting muscle function, specifically caused by mutations in the gene encoding δ-sarcoglycan. For compassionate use, off-label, or experimental treatments, here are some options:
1. **Gene Therapy**: Experimental approaches focus on delivering a functional copy of the δ-sarcoglycan gene to muscle cells.
2. **Exon Skipping**: Techniques to skip mutated exons in the gene may restore the production of functional protein.
3. **Cell Therapy**: Use of stem cells or myoblasts to repair or replace damaged muscle tissue is under investigation.
4. **Pharmacological Approaches**:
- **Ataluren**: Currently used for certain types of Duchenne muscular dystrophy, it may have potential applications for some LGMD mutations.
- **Idebenone**: An antioxidant that has shown benefits in other muscular dystrophies and may offer muscle protection.
5. **Corticosteroids**: These are sometimes used off-label to manage inflammation and slow muscle degeneration.
6. **Growth Factors**: Administration of IGF-1 (insulin-like growth factor 1) to promote muscle growth and reduce atrophy.
All of these approaches are investigational and should be considered under the guidance of a specialist in muscular dystrophies. Clinical trials and consultation with neuromuscular experts are essential for accessing these treatments. - Lifestyle Recommendations
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For individuals with autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F), lifestyle recommendations are generally aimed at managing symptoms and maintaining quality of life. Here are some suggestions:
1. **Physical Therapy**: Engage in regular, low-impact exercises and stretching routines under the guidance of a physical therapist to maintain muscle strength and flexibility.
2. **Assistive Devices**: Use orthotic supports, wheelchairs, or other mobility aids as needed to enhance independence and reduce strain on weakened muscles.
3. **Respiratory Care**: Regular monitoring and possible use of ventilatory support, especially if respiratory muscles weaken.
4. **Balanced Diet**: Ensure a nutritious diet to support overall health and energy levels, possibly consulting a dietitian for personalized guidance.
5. **Avoid Overexertion**: Manage physical activity to avoid overfatiguing muscles, which can exacerbate muscle weakness.
6. **Regular Check-Ups**: Schedule frequent medical evaluations to monitor the progression of the disease and adjust care as needed.
7. **Emotional Support**: Seek support groups or counseling to help cope with the emotional and psychological impacts of the disease.
By following these recommendations, individuals with LGMD2F can better manage their condition and maintain a higher quality of life. - Medication
- There is currently no cure for autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F). Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and the use of assistive devices. In some cases, medications such as corticosteroids may be used to slow the progression of muscle weakness. Regular monitoring by a healthcare team specialized in neuromuscular disorders is important to address any complications promptly.
- Repurposable Drugs
- As of the latest research, there are no widely recognized repurposable drugs specifically approved for treating Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F). However, treatment generally focuses on managing symptoms and improving quality of life through physical therapy, assistive devices, and sometimes corticosteroids. It's essential to consult with healthcare providers and specialists for the most current and personalized treatment options. Clinical trials may also offer insights into potential repurposable drugs.
- Metabolites
- For autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F), specific metabolites directly associated with the disease are not well-defined in clinical literature. The disease primarily results from mutations in the **SGCD** gene, which encodes the delta-sarcoglycan protein, a component of the dystrophin-glycoprotein complex involved in muscle function. Detection and diagnosis typically rely on genetic testing, muscle biopsy, and protein analysis, rather than specific metabolite profiling.
- Nutraceuticals
- Nutraceuticals are food-derived products said to provide health benefits in addition to their basic nutritional value. For autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F), there is limited evidence on the specific effectiveness of nutraceuticals. However, general nutritional strategies, including antioxidant supplementation (such as vitamin E and coenzyme Q10), omega-3 fatty acids, and creatine, may support muscle function and potentially improve overall well-being. Always consult healthcare professionals to discuss appropriate interventions tailored to individual needs and conditions.
- Peptides
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is caused by mutations in the gene encoding the protein gamma-sarcoglycan (SGCG). Defects in SGCG disrupt the sarcoglycan complex, crucial for muscle fiber stability during contraction. This disruption leads to muscle wasting and weakness predominantly in the shoulders and hips. Currently, research into peptide-based treatments for LGMD2F is limited. Peptides potentially could be used to modulate protein interactions or enhance stability, but no such therapies have been approved. The primary management for LGMD2F involves physical therapy, symptom management, and supportive care.