myofibrillar myopathy 9

Myofibrillar Myopathy (MFM) is a rare, often overlooked disorder characterized by two major hist

Myofibrillar myopathy (MFM) can manifest in various ways, and its symptoms may vary from person to person. Here are some common signs and symptoms associated with MFM:

• Muscle weakness: This is a hallmark symptom of MFM, and it can affect skeletal muscles [1].
• Cardiomyopathy: A weakened heart muscle (cardiomyopathy) is another common sign of MFM [2][3][6][7][8].
• Muscle pain (myalgia): Muscle pain or tenderness is a frequent complaint among individuals with MFM [2][4][6][7][8].
• Loss of sensation and weakness: Some people may experience numbness, tingling, or loss of sensation in their limbs, along with muscle weakness [3][7][8].
• Joint stiffness (contractures): Joint stiffness or contractures can also occur in individuals with MFM [4].
• Abnormal side-to-side curvature of the spine: In some cases, people with MFM may develop an abnormal side-to-side curvature of the spine [4].

It's worth noting that these symptoms can vary in severity and progression from person to person. If you or someone you know is experiencing any of these symptoms, it's essential to consult a healthcare professional for proper diagnosis and treatment.

References: [1] Context result 1 [2] Context result 6 [3] Context result 7 [4] Context result 4 [5] Not applicable (since there are no additional context results) [6] Context result 6 [7] Context result 7 [8] Context result 8

Diagnostic Tests for Myofibrillar Myopathy

Myofibrillar myopathy can be diagnosed through a combination of clinical evaluation, electromyography (EMG), nerve conduction studies (NCS), and muscle biopsy. Here are the diagnostic tests mentioned in the context:

• Electromyography (EMG) and Nerve Conduction Studies (NCS): These tests measure the electrical activity of muscles and nerves, respectively. They can help identify abnormal muscle function and confirm a diagnosis of myofibrillar myopathy [6][7].
• Muscle Biopsy: A muscle biopsy is a procedure where a small sample of muscle tissue is taken from the affected area. The biopsy can be used to examine the muscle fibers under a microscope, which can help confirm a diagnosis of myofibrillar myopathy [5][8][9].

Additionally, genetic testing for mutations in specific genes such as DES, CRYAB, MYOT, ZASP, BAG3, DNAJB6, TTN, and FLNC can be used to confirm the diagnosis of myofibrillar myopathy [2][4][8].

Current Research on Drug Treatment for Myofibrillar Myopathy

According to recent studies, metformin has been identified as a potential candidate to treat BAG3 myofibrillar myopathy and other forms of myofibrillar myopathy due to mutations in the BAG3 gene [8][9]. Research suggests that metformin can reduce protein aggregation, prevent fiber disintegration, and stimulate autophagy, which may help alleviate symptoms of the condition [9].

Additionally, a study published in 2021 demonstrated that metformin treatment in zebrafish and human myoblasts was able to remove protein aggregates and rescue muscle fibers from degeneration [6]. While these findings are promising, it is essential to note that more research is needed to confirm the efficacy of metformin as a treatment for myofibrillar myopathy.

Other potential treatments being explored include checkpoint inhibitor immunotherapy (pembrolizumab, nivolumab), corticosteroids (prednisone), cholesterol-lowering drugs (statins), and antiviral and protease inhibitors used in the treatment of HIV infection [2].

References:

[6] AA Ruparelia · 2021 · Cited by 36 — Metformin is not only able to bring about the removal of protein aggregates in zebrafish and human myoblasts but is also able to rescue the fiber ...

[8] Oct 14, 2020 — "We have identified metformin as a strong candidate to treat BAG3 myofibrillar myopathy, and also myofibrillar myopathy due to mutations in ...

[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, ...

Differential Diagnosis of Myofibrillar Myopathy

Myofibrillar myopathy (MFM) is a rare genetic neuromuscular disorder that can be challenging to diagnose. A differential diagnosis, therefore, involves considering other conditions that may present with similar symptoms.

According to various medical sources [7][9], the principal clinical differential diagnoses for MFM include:

• Myotonic Dystrophy: This is an autosomal dominant disorder characterized by progressive muscle stiffness and wasting.
• Other Muscular Dystrophies: Such as Becker muscular dystrophy, Duchenne muscular dystrophy, and facioscapulohumeral muscular dystrophy.
• Motor and Sensory Neuropathies: Conditions that affect the nerves controlling voluntary movements and sensations.
• Inclusion Body Myositis/Myopathy: A rare inflammatory muscle disease.

These conditions can present with similar symptoms to MFM, such as progressive muscle weakness, wasting, and atrophy. Therefore, a comprehensive diagnostic workup is essential to rule out these differential diagnoses and confirm the diagnosis of myofibrillar myopathy [8].

References:

[7] Jan 1, 2011 — Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. [8] A diagnosis is made based on clinical findings, electromyography, nerve conduction studies and muscle biopsy. Molecular genetic testing for the DES, CRYAB, MYOT ... [9] Myofibrillar myopathy is a neuromuscular disease characterized by slowly progressive muscle weakness that can involve both proximal and distal muscles. Symptoms ...