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myofibrillar myopathy 3
ICD-10 Codes
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Description
Myofibrillar myopathies are a group of conditions called myopathies that affect muscle function and cause weakness. They primarily affect skeletal muscles.
- These conditions are characterized by a slowly progressive muscle weakness that can involve both proximal muscles (such as hips, thighs, and shoulders) and distal muscles (such as hands and feet).
- Myofibrillar myopathies are a group of muscular dystrophies with a similar morphologic phenotype.
- They affect muscle function and cause weakness, and are often associated with cardiomyopathy, which can manifest as arrhythmia, conduction defects or congestive heart failure.
Myofibrillar myopathies are a rare genetic neuromuscular disorder that affects muscle function and cause weakness. They primarily affect skeletal muscles and are characterized by a slowly progressive muscle weakness that can involve both proximal and distal muscles.
References: [3] Myofibrillar myopathies are a group of conditions called myopathies that affect muscle function and cause weakness. They primarily affect skeletal muscles. [5] Myofibrillar myopathies (MFM) are a group of rare genetic neuromuscular disorders that affect muscle function and cause weakness. [8] Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness.
Additional Characteristics
- Myofibrillar myopathies are a group of conditions called myopathies that affect muscle function and cause weakness.
- They primarily affect skeletal muscles.
- Myofibrillar myopathies are a rare genetic neuromuscular disorder that affects muscle function and cause weakness.
- They primarily affect skeletal muscles and are characterized by a slowly progressive muscle weakness that can involve both proximal and distal muscles.
- Myofibrillar myopathies are a group of muscular dystrophies with a similar morphologic phenotype.
- They affect muscle function and cause weakness, and are often associated with cardiomyopathy,
Signs and Symptoms
Myofibrillar myopathy (MFM) can be associated with several symptoms, including:
- Pain and tingling in the limbs (peripheral neuropathy)
- An enlarged and weakened heart (cardiomyopathy)
These symptoms can vary from person to person and may not be present in all individuals with MFM. However, they are some of the common signs and symptoms that have been associated with this condition.
According to [3], other symptoms that can be associated with MFM include pain and tingling in the limbs (peripheral neuropathy) or an enlarged and weakened heart (cardiomyopathy). This information is consistent with [6] which also mentions a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation, as signs and symptoms of myofibrillar myopathy.
Additional Symptoms
- muscle pain (myalgia)
- Pain and tingling in the limbs (peripheral neuropathy)
- An enlarged and weakened heart (cardiomyopathy)
- pain and tingling in the limbs (peripheral neuropathy) or an enlarged and weakened heart (cardiomyopathy)
- weakened heart muscle (cardiomyopathy)
- loss of sensation
Diagnostic Tests
Myofibrillar myopathy (MFM) can be diagnosed through various diagnostic tests, including:
- Muscle biopsy: This is a key diagnostic tool for MFM, and the findings in frozen sections are used to make a generic diagnosis [1].
- Genetic testing: This can confirm the diagnosis of MFM by identifying mutations associated with the condition [2].
- Electromyography (EMG) and nerve conduction studies: These tests evaluate the electrical activity of muscles and nerves, respectively, and may be used as part of the diagnostic workup for MFM [5].
- Blood tests: Enzyme tests, such as those mentioned in [8], may also be performed to help diagnose MFM.
- The Invitae Comprehensive Myopathy Panel is a genetic test that analyzes genes associated with inherited myopathies, including MFM [9].
It's worth noting that the diagnosis of MFM can be challenging and may require a combination of these tests. Additionally, no clinical diagnostic criteria have been established for MFM, and the diagnosis is typically based on characteristic morphological features in muscle biopsy findings [4].
Additional Diagnostic Tests
- Blood tests
- Genetic testing
- Muscle biopsy
- Electromyography (EMG) and nerve conduction studies
- The Invitae Comprehensive Myopathy Panel
Treatment
Current Status of Drug Treatment for Myofibrillar Myopathy
Unfortunately, there is currently no effective treatment for myofibrillar myopathy (MFM) [4][5]. The high cost of treatment poses significant burdens for patients and their families. However, researchers are actively exploring potential therapeutic options.
- Metformin: A study has identified metformin as a strong candidate to treat BAG3 MFM [6]. Metformin is an FDA-approved drug that stimulates autophagy, which can help reduce protein aggregation and prevent fiber disintegration in MFM patients [9].
- Immunomodulatory/immunosuppressant drugs: These medications, such as methotrexate, cyclosporine, tacrolimus, azathioprine, and mycophenolate, are sometimes used to treat other types of myopathies, but their effectiveness in treating MFM is not well established [8].
Emerging Therapies
Recent research has shown promise in developing new treatments for MFM. For example:
- Chaenomelis Fructus: A study published in 2024 reported the development of a new drug using effective components of this Chinese herbal medicine, which may offer a potential treatment option for MFM [3].
While these findings are promising, it's essential to note that more research is needed to fully understand the efficacy and safety of these emerging therapies.
References:
[3] Jan 10, 2024 — HKBU has developed a new drug using effective components of a Chinese herbal medicine, Chaenomelis Fructus, for the treatment of the rare disease, myofibrillar myopathy. [4][5] Jan 12, 2024 — Currently, there is no effective treatment for myofibrillar myopathy, and the high cost of treatment poses significant burdens for patients, [6] Oct 14, 2020 — "We have identified metformin as a strong candidate to treat BAG3 myofibrillar myopathy, and also myofibrillar myopathy due to mutations in ... [8] These myopathies are often treated with: Immunomodulatory/immunosuppressant drugs such as methotrexate, cyclosporine, tacrolimus, azathioprine, mycophenolate, [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, ...
Recommended Medications
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Differential Diagnosis
Differential Diagnosis of Myofibrillar Myopathy
Myofibrillar myopathy (MFM) can be challenging to diagnose, and it's essential to consider other conditions that may present with similar symptoms. The principal clinical differential diagnoses for MFM include:
- Myotonic Dystrophy: This is a genetic disorder characterized by progressive muscle stiffness and wasting. It's often associated with cataracts, heart conduction defects, and endocrine problems.
- Other Muscular Dystrophies: Conditions like Duchenne muscular dystrophy, Becker muscular dystrophy, and facioscapulohumeral muscular dystrophy can also present with similar symptoms to MFM.
- Motor and Sensory Neuropathies: These conditions affect the nerves that control muscle movement and sensation. They can cause weakness, numbness, or tingling in various parts of the body.
To diagnose MFM accurately, a comprehensive evaluation is necessary, including:
- Clinical Findings: A thorough medical history and physical examination are crucial to identify characteristic features of MFM.
- Electromyography (EMG): This test measures the electrical activity of muscles to detect abnormal muscle function.
- Nerve Conduction Studies (NCS): These tests evaluate the speed and strength of nerve signals.
- Muscle Biopsy: A biopsy of affected muscle tissue is essential for establishing a definitive diagnosis of MFM.
Molecular genetic testing may also be performed to identify specific gene mutations associated with MFM, such as DES, CRYAB, or MYOT.
Additional Differential Diagnoses
- Other Muscular Dystrophies (Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy)
- Motor and Sensory Neuropathies
- myotonic dystrophy type 2
Additional Information
- IAO_0100001
- http://purl.obolibrary.org/obo/DOID_0080091
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- 2015-11-10T16:59:22Z
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- DOID:0080094
- IAO_0000115
- A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
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- spheroid body myopathy
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- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- relatedICD
- http://example.org/icd10/G71.0
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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