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myofibrillar myopathy 7
Description
Myofibrillar myopathies are characterized by abnormal electrical irritability in muscles, which can manifest as fibrillation potentials, positive sharp waves, and complex repetitive discharges [7]. This condition is often associated with muscle weakness and can affect both proximal and distal muscles. The symptoms of myofibrillar myopathy can vary widely among individuals, but they typically involve a slowly progressive decline in muscle function.
Some common features of myofibrillar myopathies include:
- Muscle weakness that can affect any part of the body
- Abnormal electrical activity in muscles (such as fibrillation potentials)
- Cardiac symptoms such as arrhythmia or congestive heart failure
- Slowly progressive decline in muscle function
It's worth noting that myofibrillar myopathies are a group of rare genetic neuromuscular disorders, and the exact cause is not yet fully understood. However, research has shown that they are associated with mutations in certain genes that affect muscle function.
References: [7] Abnormal electrical irritability, consisting of fibrillation potentials, positive sharp waves and complex repetitive discharges, was present in 30 patients; 15 of these had cardiac symptoms [7].
Additional Characteristics
- Muscle weakness that can affect any part of the body
- Abnormal electrical activity in muscles (such as fibrillation potentials)
- Cardiac symptoms such as arrhythmia or congestive heart failure
- Slowly progressive decline in muscle function
Signs and Symptoms
Myofibrillar Myopathy (MFM) is a rare genetic disorder that affects the skeletal muscles, leading to progressive muscle weakness. The signs and symptoms of MFM can vary from person to person, but here are some common ones:
- Muscle Weakness: Muscle weakness is the most common symptom of MFM, which worsens over time [7]. This can affect any muscle group, including those used for walking, running, or even simple tasks like lifting a cup.
- Weakened Heart Muscle (Cardiomyopathy): In some cases, MFM can also affect the heart muscle, leading to cardiomyopathy. This can cause symptoms like shortness of breath, fatigue, and swelling in the legs [6].
- Muscle Pain (Myalgia): Some people with MFM may experience muscle pain or tenderness, especially after physical activity.
- Loss of Sensation: In rare cases, MFM can also cause loss of sensation or numbness in the affected muscles.
It's essential to note that these symptoms can be similar to those experienced by people with other neuromuscular disorders. If you suspect you or a loved one may have MFM, consult a healthcare professional for proper diagnosis and treatment.
Additional Symptoms
- Loss of Sensation
- Weakened Heart Muscle (Cardiomyopathy)
- Muscle Pain (Myalgia)
- muscle weakness
Diagnostic Tests
To determine the diagnostic tests for myofibrillar myopathy, let's consider the relevant information from the search results.
Myofibrillar myopathies are a group of rare genetic neuromuscular disorders that may be diagnosed in childhood but most often appear after 40 [1]. The diagnosis of MFM is based on clinical findings, electromyography, nerve conduction studies and muscle biopsy [4].
The diagnostic process typically starts with a medical history and physical examination by your doctor. After that, your doctor might recommend the following tests:
- Electromyography (EMG and nerve conduction studies), including testing the electrical conduction of your nerves and needle examination of your muscles [5].
- Enzyme tests [7].
Additionally, diagnosis involves muscle biopsy and genetic testing [8]. A diagnosis of MFM is made by identifying aggregates of a cytoskeletal protein called desmin in a muscle biopsy using immunohistochemical stains [9].
In summary, the diagnostic tests for myofibrillar myopathy include:
- Electromyography (EMG and nerve conduction studies)
- Enzyme tests
- Muscle biopsy
- Genetic testing
These tests help identify the characteristic morphological features in the muscle biopsy, which is essential for diagnosing MFM [3].
Additional Diagnostic Tests
- Genetic testing
- Muscle biopsy
- Electromyography (EMG and nerve conduction studies)
- Enzyme tests
Treatment
Current Research on Drug Treatment for Myofibrillar Myopathy
According to recent research, metformin has been identified as a strong candidate to treat BAG3 myofibrillar myopathy and also myofibrillar myopathy due to mutations in other genes [7]. This suggests that repurposing metformin provides a promising therapy for these conditions.
Metformin is an FDA-approved drug that stimulates autophagy, which can help reduce protein aggregation and prevent fiber disintegration in muscle cells [8][9]. These effects are particularly relevant for treating myofibrillar myopathy, where protein aggregates and muscle fiber disintegration are key features of the disease.
While this research holds promise, it is essential to note that metformin has not yet been widely adopted as a treatment for myofibrillar myopathy. Further studies are needed to confirm its efficacy and safety in humans.
References:
[7] Oct 14, 2020 — "We have identified metformin as a strong candidate to treat BAG3 myofibrillar myopathy, and also myofibrillar myopathy due to mutations in other genes."
[8] by AA Ruparelia · 2021 · Cited by 36 — Therefore, repurposing metformin provides a promising therapy for BAG3 myopathy.
[9] by AA Ruparelia · 2021 · Cited by 36 — Our data collectively demonstrated that the FDA-approved, autophagy stimulating drug, metformin reduced protein aggregation, prevented fiber disintegration, ...
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Myofibrillar Myopathy
Myofibrillar myopathy (MFM) is a rare genetic neuromuscular disorder that can be challenging to diagnose. A differential diagnosis of MFM involves considering other conditions that may present with similar symptoms and muscle biopsy findings.
Some conditions that may be considered in the differential diagnosis of MFM include:
- Muscular dystrophies: These are a group of disorders that affect muscle function and cause weakness, including myofibrillar myopathy (MFM) [5].
- Distal myopathies: This is a rare and heterogeneous group of disorders that present with weakness of the distal muscles of the hands, feet, or both [7].
- Other neuromuscular disorders: Such as inclusion-body myositis, polymyositis, and dermatomyositis.
A diagnosis of MFM is typically made based on a combination of clinical findings, electromyography, nerve conduction studies, muscle biopsy, and molecular genetic testing for the DES, CRYAB, MYOT, and other genes associated with the condition [6].
It's worth noting that myofibrillar myopathy can be diagnosed in childhood but most often appears after 40 years of age [1].
Additional Differential Diagnoses
- Muscular dystrophies
- Distal myopathies
- polymyositis
- myositis
- dermatomyositis
Additional Information
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- A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22.
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.