Congenital myopathy: Difference between revisions
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{{Infobox medical condition | |||
| name = Congenital myopathy | |||
| synonyms = | |||
| field = [[Neurology]], [[Genetics]] | |||
| symptoms = Muscle weakness, hypotonia, delayed motor milestones | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = Genetic mutations | |||
| risks = Family history | |||
| diagnosis = [[Muscle biopsy]], [[Genetic testing]] | |||
| differential = [[Muscular dystrophy]], [[Metabolic myopathy]] | |||
| treatment = Supportive care, physical therapy | |||
| prognosis = Varies depending on type | |||
| frequency = Rare | |||
}} | |||
'''Congenital Myopathy''' is a term for any muscle disorder present at birth. These disorders result from genetic mutations and affect the muscle fibers leading to muscle weakness, hypotonia, and delayed motor skills development. The severity, distribution of muscle weakness, and the course of the disease can vary widely. | '''Congenital Myopathy''' is a term for any muscle disorder present at birth. These disorders result from genetic mutations and affect the muscle fibers leading to muscle weakness, hypotonia, and delayed motor skills development. The severity, distribution of muscle weakness, and the course of the disease can vary widely. | ||
==Types of Congenital Myopathy== | ==Types of Congenital Myopathy== | ||
There are several types of congenital myopathies, including: | There are several types of congenital myopathies, including: | ||
* '''[[Nemaline Myopathy]]''' - This is the most common form of congenital myopathy. It is characterized by muscle weakness, hypotonia, and the presence of rod-like structures, or nemalines, in the muscle fibers. | * '''[[Nemaline Myopathy]]''' - This is the most common form of congenital myopathy. It is characterized by muscle weakness, hypotonia, and the presence of rod-like structures, or nemalines, in the muscle fibers. | ||
* '''[[Centronuclear Myopathy]]''' - This type of myopathy is characterized by the central location of nuclei in the muscle fibers. It can be further divided into three types: X-linked myotubular myopathy, autosomal dominant centronuclear myopathy, and autosomal recessive centronuclear myopathy. | * '''[[Centronuclear Myopathy]]''' - This type of myopathy is characterized by the central location of nuclei in the muscle fibers. It can be further divided into three types: X-linked myotubular myopathy, autosomal dominant centronuclear myopathy, and autosomal recessive centronuclear myopathy. | ||
* '''[[Core Myopathy]]''' - This type of myopathy is characterized by the presence of cores, or areas of reduced oxidative activity, in the muscle fibers. | * '''[[Core Myopathy]]''' - This type of myopathy is characterized by the presence of cores, or areas of reduced oxidative activity, in the muscle fibers. | ||
* '''[[Congenital Fiber-Type Disproportion]]''' - This type of myopathy is characterized by a significant disproportion in the size of type 1 and type 2 muscle fibers. | * '''[[Congenital Fiber-Type Disproportion]]''' - This type of myopathy is characterized by a significant disproportion in the size of type 1 and type 2 muscle fibers. | ||
==Symptoms== | ==Symptoms== | ||
The symptoms of congenital myopathies can vary widely, but they generally include: | The symptoms of congenital myopathies can vary widely, but they generally include: | ||
* Muscle weakness | * Muscle weakness | ||
* Hypotonia | * Hypotonia | ||
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* Difficulty swallowing | * Difficulty swallowing | ||
* Scoliosis | * Scoliosis | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of congenital myopathies is based on the clinical presentation, family history, and the results of diagnostic tests, including: | The diagnosis of congenital myopathies is based on the clinical presentation, family history, and the results of diagnostic tests, including: | ||
* '''[[Muscle Biopsy]]''' - This is the most definitive test for diagnosing congenital myopathies. It involves removing a small sample of muscle tissue for examination under a microscope. | * '''[[Muscle Biopsy]]''' - This is the most definitive test for diagnosing congenital myopathies. It involves removing a small sample of muscle tissue for examination under a microscope. | ||
* '''[[Genetic Testing]]''' - This can be used to identify the specific genetic mutation causing the myopathy. | * '''[[Genetic Testing]]''' - This can be used to identify the specific genetic mutation causing the myopathy. | ||
* '''[[Electromyography]]''' - This test measures the electrical activity of the muscles. | * '''[[Electromyography]]''' - This test measures the electrical activity of the muscles. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for congenital myopathies. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include: | There is currently no cure for congenital myopathies. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include: | ||
* Physical therapy | * Physical therapy | ||
* Occupational therapy | * Occupational therapy | ||
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* Respiratory support | * Respiratory support | ||
* Nutritional support | * Nutritional support | ||
==See Also== | ==See Also== | ||
* [[Muscular Dystrophy]] | * [[Muscular Dystrophy]] | ||
* [[Spinal Muscular Atrophy]] | * [[Spinal Muscular Atrophy]] | ||
* [[Charcot-Marie-Tooth Disease]] | * [[Charcot-Marie-Tooth Disease]] | ||
[[Category:Congenital Disorders]] | [[Category:Congenital Disorders]] | ||
[[Category:Muscular Disorders]] | [[Category:Muscular Disorders]] | ||
Latest revision as of 00:53, 4 April 2025
| Congenital myopathy | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Muscle weakness, hypotonia, delayed motor milestones |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations |
| Risks | Family history |
| Diagnosis | Muscle biopsy, Genetic testing |
| Differential diagnosis | Muscular dystrophy, Metabolic myopathy |
| Prevention | N/A |
| Treatment | Supportive care, physical therapy |
| Medication | N/A |
| Prognosis | Varies depending on type |
| Frequency | Rare |
| Deaths | N/A |
Congenital Myopathy is a term for any muscle disorder present at birth. These disorders result from genetic mutations and affect the muscle fibers leading to muscle weakness, hypotonia, and delayed motor skills development. The severity, distribution of muscle weakness, and the course of the disease can vary widely.
Types of Congenital Myopathy[edit]
There are several types of congenital myopathies, including:
- Nemaline Myopathy - This is the most common form of congenital myopathy. It is characterized by muscle weakness, hypotonia, and the presence of rod-like structures, or nemalines, in the muscle fibers.
- Centronuclear Myopathy - This type of myopathy is characterized by the central location of nuclei in the muscle fibers. It can be further divided into three types: X-linked myotubular myopathy, autosomal dominant centronuclear myopathy, and autosomal recessive centronuclear myopathy.
- Core Myopathy - This type of myopathy is characterized by the presence of cores, or areas of reduced oxidative activity, in the muscle fibers.
- Congenital Fiber-Type Disproportion - This type of myopathy is characterized by a significant disproportion in the size of type 1 and type 2 muscle fibers.
Symptoms[edit]
The symptoms of congenital myopathies can vary widely, but they generally include:
- Muscle weakness
- Hypotonia
- Delayed motor skills development
- Respiratory problems
- Difficulty swallowing
- Scoliosis
Diagnosis[edit]
The diagnosis of congenital myopathies is based on the clinical presentation, family history, and the results of diagnostic tests, including:
- Muscle Biopsy - This is the most definitive test for diagnosing congenital myopathies. It involves removing a small sample of muscle tissue for examination under a microscope.
- Genetic Testing - This can be used to identify the specific genetic mutation causing the myopathy.
- Electromyography - This test measures the electrical activity of the muscles.
Treatment[edit]
There is currently no cure for congenital myopathies. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include:
- Physical therapy
- Occupational therapy
- Speech therapy
- Respiratory support
- Nutritional support
See Also[edit]
| Diseases of muscle, neuromuscular junction, and neuromuscular disease | ||||||||||||||
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