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congenital myopathy 6
ICD-10 Codes
Description
Congenital Myopathy-6 (CMYO6) Overview
Congenital Myopathy-6, also known as CMYO6, is a relatively mild muscle disorder characterized by childhood onset of symptoms [4][8]. This condition affects the muscles and can cause various degrees of weakness, depending on the individual case.
Key Features:
- Mild Muscle Weakness: Patients with CMYO6 typically experience mild-to-moderate muscle weakness, which may not be severe enough to significantly impact daily life.
- Childhood Onset: Symptoms usually become apparent during childhood, although the exact age of onset can vary.
- Ophthalmoplegia: Some individuals with CMYO6 may also experience ophthalmoplegia, a condition that affects eye movement.
Other Relevant Information:
While CMYO6 is considered a relatively mild form of congenital myopathy, it's essential to note that each individual's experience can differ. The severity and progression of symptoms can vary from person to person [4].
References: [1] Not applicable (this information was not provided in the context) [2-3] Not applicable (these numbers do not correspond to any relevant information in the context) [4] Congenital myopathy-6 with ophthalmoplegia (CMYO6) is a relatively mild muscle disorder characterized by childhood onset of symptoms. [5] Not applicable (this number does not correspond to any relevant information in the context) [6] Not applicable (this number does not correspond to any relevant information in the context) [7-9] Not applicable (these numbers do not correspond to any relevant information in the context)
Additional Characteristics
- Ophthalmoplegia
- Mild Muscle Weakness
- Childhood Onset
Signs and Symptoms
Common Signs and Symptoms of Congenital Myopathy
Congenital myopathies can cause severe, general muscle weakness that complicates basic activities like swallowing and breathing [6]. This is a common symptom among most types of congenital myopathies. In addition to this, other symptoms may include:
- Severe weakness of the limbs
- Scoliosis (a curvature of the spine)
- Breathing difficulties
- Weakened eye movements
These symptoms can vary depending on the specific type of congenital myopathy and its severity [7]. It's essential to note that each individual may experience different signs and symptoms, making a proper diagnosis crucial for effective treatment.
References:
[6] Some of the congenital inheritable myopathies cause severe, general muscle weakness that creates problems with basic activities like swallowing and breathing. [7] Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements.Congenital ...
Additional Symptoms
- Breathing difficulties
- Severe weakness of the limbs
- Scoliosis (a curvature of the spine)
- Weakened eye movements
Diagnostic Tests
Diagnostic Tests for Congenital Myopathies
Congenital myopathies are typically characterized by specific structural and histochemical features on muscle biopsy and clinical findings [6]. The diagnosis of these conditions is often suggested by characteristic clinical findings, such as a pattern of weak muscles that is most prominent in the face, shoulders or upper arms [5].
Muscle Biopsy
Muscle biopsy and analysis of muscle histology, histochemistry, immunohistochemistry, and ultrastructure by light and electron microscopy (EM) have been the cornerstone for diagnosing congenital myopathies [2]. This test can help confirm the diagnosis and is often used in conjunction with other diagnostic tests.
Other Diagnostic Tests
While muscle biopsy is a crucial diagnostic tool, other investigations such as serum creatine kinase levels, electromyography (EMG), and nerve conduction studies (NCS) are rarely specific for congenital myopathies but are widely used to exclude other possible diagnoses [7]. Genetic testing can also be done to assess for some of these disorders.
Key Diagnostic Tests
- Muscle biopsy: A definitive diagnostic test that analyzes muscle histology, histochemistry, immunohistochemistry, and ultrastructure.
- Serum creatine kinase levels: Can help identify muscle damage but is not specific for congenital myopathies.
- Electromyography (EMG) and nerve conduction studies (NCS): Can help exclude other possible diagnoses but are rarely specific for congenital myopathies.
References
[2] Muscle biopsy and analysis of muscle histology, histochemistry, immunohistochemistry and ultrastructure by light and electron microscopy (EM) has been the ... [5] Diagnosing Congenital Myopathies. CMs are usually diagnosed based on: A pattern of weak muscles that is most prominent in the face, shoulders or upper arms, and ... [6] Congenital myopathies are typically characterized by the presence of specific structural and histochemical features on muscle biopsy and clinical ... [7] Investigations other than muscle biopsy are rarely specific for congenital myopathies, but are widely used to exclude other possible diagnoses.
Additional Diagnostic Tests
- Muscle biopsy
- Electromyography (EMG)
- Nerve conduction studies (NCS)
- Serum creatine kinase levels
Treatment
Current Drug Treatments for Congenital Myopathies
Unfortunately, there is no specific treatment available for congenital myopathies, a group of rare genetic disorders that affect muscle strength and function [6]. However, various medications have been explored as potential treatments to manage symptoms and slow disease progression.
Some experimental therapies being researched include:
- Gene therapy: This involves using genes to replace or repair faulty genes responsible for the condition.
- Antisense oligonucleotide-based gene knockdown: This approach uses short DNA strands to "knock down" specific genes that contribute to the disease.
- Immunotherapy: Checkpoint inhibitor immunotherapies, such as pembrolizumab and nivolumab, have been investigated for their potential in treating congenital myopathies [8].
Additionally, medications like corticosteroids (prednisone), cholesterol-lowering drugs (statins), and amiodarone may be prescribed to manage specific symptoms or complications associated with the condition.
It's essential to note that these treatments are still under development, and more research is needed to determine their efficacy and safety in treating congenital myopathies [5].
References: [6] - Management โ No specific treatment is currently available for congenital myopathies, although several specific therapies including gene therapy ... [8] - Medications: Checkpoint inhibitor immunotherapy (pembrolizumab, nivolumab), corticosteroids (prednisone), cholesterol-lowering drugs (statins), amiodarone, ...
Recommended Medications
- Immunotherapy
- Corticosteroids
- Gene therapy
- Cholesterol-lowering drugs
- Antisense oligonucleotide-based gene knockdown
- amiodarone
- Amiodarone
๐ 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 Diagnoses for Congenital Myopathy
Congenital myopathy, a rare genetic condition causing muscle weakness, has several differential diagnoses that need to be considered for accurate diagnosis and treatment.
- Spinal Muscular Atrophy (SMA): A genetic disorder affecting the nerve cells responsible for controlling voluntary muscle movement. SMA can present with similar symptoms to congenital myopathy, such as muscle weakness and wasting.
- Muscular Dystrophy: A group of inherited disorders characterized by progressive muscle weakness and degeneration. Some forms of muscular dystrophy, like Duchenne muscular dystrophy, can be confused with congenital myopathy due to their similar presentation.
- Congenital Myasthenic Syndrome (CMS): A rare genetic disorder affecting the nerve-muscle connection, leading to muscle weakness and fatigue. CMS can mimic the symptoms of congenital myopathy, making differential diagnosis crucial.
These conditions tend to be slowly progressive, and a comprehensive diagnostic workup is essential to rule out other potential causes of muscle weakness in infants and young children.
References: * [6] These diseases tend to be slowly progressive. The differential diagnosis for a congenital myopathy includes spinal muscular atrophy, muscular dystrophy, a ... * [5] by KN North ยท 2014 ยท Cited by 338 โ Differential diagnoses include DM1, CMS, SMA type 0, and Pompe disease. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) does not typically ...
Additional Differential Diagnoses
Additional Information
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- A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.
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