Congenital muscular dystrophy: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Congenital muscular dystrophy | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Congenital muscular dystrophy is often inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = CMD | |||
| specialty = [[Neurology]], [[Pediatrics]] | |||
| symptoms = Muscle weakness, hypotonia, joint contractures | |||
| onset = Birth or early infancy | |||
| duration = Lifelong | |||
| causes = Genetic mutations | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[Muscle biopsy]], [[Electromyography]] | |||
| differential = [[Spinal muscular atrophy]], [[Myotonic dystrophy]], [[Duchenne muscular dystrophy]] | |||
| treatment = [[Physical therapy]], [[Occupational therapy]], [[Orthopedic surgery]] | |||
| prognosis = Varies depending on type | |||
| frequency = Rare | |||
}} | |||
'''Congenital Muscular Dystrophy''' ('''CMD''') is a group of [[muscle diseases]] that occur at birth or within the first two years of life. CMD is characterized by progressive muscle weakness and wasting. | '''Congenital Muscular Dystrophy''' ('''CMD''') is a group of [[muscle diseases]] that occur at birth or within the first two years of life. CMD is characterized by progressive muscle weakness and wasting. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of CMD are usually noticeable at birth or in infancy. They include: | The symptoms of CMD are usually noticeable at birth or in infancy. They include: | ||
* [[Muscle weakness]] | * [[Muscle weakness]] | ||
* [[Motor delay]] | * [[Motor delay]] | ||
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* [[Feeding difficulties]] | * [[Feeding difficulties]] | ||
* [[Joint deformities]] | * [[Joint deformities]] | ||
== Types == | == Types == | ||
There are several types of CMD, each with its own set of symptoms and rate of progression. These include: | There are several types of CMD, each with its own set of symptoms and rate of progression. These include: | ||
* '''Ullrich CMD''': Characterized by muscle weakness, joint stiffness, and joint deformities. | * '''Ullrich CMD''': Characterized by muscle weakness, joint stiffness, and joint deformities. | ||
* '''Fukuyama CMD''': Characterized by muscle weakness, brain abnormalities, and seizures. | * '''Fukuyama CMD''': Characterized by muscle weakness, brain abnormalities, and seizures. | ||
* '''Walker-Warburg Syndrome''': Characterized by muscle weakness, eye abnormalities, and brain abnormalities. | * '''Walker-Warburg Syndrome''': Characterized by muscle weakness, eye abnormalities, and brain abnormalities. | ||
== Causes == | == Causes == | ||
CMD is caused by mutations in various genes. These mutations affect proteins that are necessary for normal muscle function. CMD is usually inherited in an [[autosomal recessive]] manner, which means both copies of the gene in each cell have mutations. | CMD is caused by mutations in various genes. These mutations affect proteins that are necessary for normal muscle function. CMD is usually inherited in an [[autosomal recessive]] manner, which means both copies of the gene in each cell have mutations. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of CMD is based on the clinical symptoms, family history, and confirmed by genetic testing. Other tests like muscle biopsy, MRI, and electromyography may also be used. | The diagnosis of CMD is based on the clinical symptoms, family history, and confirmed by genetic testing. Other tests like muscle biopsy, MRI, and electromyography may also be used. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for CMD. Treatment is supportive and aims to improve quality of life. This may include physical therapy, respiratory support, and management of other medical complications. | There is currently no cure for CMD. Treatment is supportive and aims to improve quality of life. This may include physical therapy, respiratory support, and management of other medical complications. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with CMD varies depending on the type of CMD and the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to respiratory complications. | The prognosis for individuals with CMD varies depending on the type of CMD and the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to respiratory complications. | ||
== See Also == | == See Also == | ||
* [[Muscular Dystrophy]] | * [[Muscular Dystrophy]] | ||
* [[Genetic Disorders]] | * [[Genetic Disorders]] | ||
* [[Neuromuscular Disorders]] | * [[Neuromuscular Disorders]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Congenital Disorders]] | [[Category:Congenital Disorders]] | ||
[[Category:Muscular Dystrophy]] | [[Category:Muscular Dystrophy]] | ||
[[Category:Genetic Disorders]] | [[Category:Genetic Disorders]] | ||
[[Category:Neuromuscular Disorders]] | [[Category:Neuromuscular Disorders]] | ||
[[File:1025 Atrophy.png|thumb | [[File:1025 Atrophy.png|left|thumb|Muscle atrophy]] | ||
{{Muscular dystrophy}} | {{Muscular dystrophy}} | ||
{{stub}} | {{stub}} | ||
Latest revision as of 02:23, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Congenital muscular dystrophy | |
|---|---|
| |
| Synonyms | CMD |
| Pronounce | N/A |
| Specialty | Neurology, Pediatrics |
| Symptoms | Muscle weakness, hypotonia, joint contractures |
| Complications | N/A |
| Onset | Birth or early infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations |
| Risks | Family history |
| Diagnosis | Genetic testing, Muscle biopsy, Electromyography |
| Differential diagnosis | Spinal muscular atrophy, Myotonic dystrophy, Duchenne muscular dystrophy |
| Prevention | N/A |
| Treatment | Physical therapy, Occupational therapy, Orthopedic surgery |
| Medication | N/A |
| Prognosis | Varies depending on type |
| Frequency | Rare |
| Deaths | N/A |
Congenital Muscular Dystrophy (CMD) is a group of muscle diseases that occur at birth or within the first two years of life. CMD is characterized by progressive muscle weakness and wasting.
Symptoms[edit]
The symptoms of CMD are usually noticeable at birth or in infancy. They include:
Types[edit]
There are several types of CMD, each with its own set of symptoms and rate of progression. These include:
- Ullrich CMD: Characterized by muscle weakness, joint stiffness, and joint deformities.
- Fukuyama CMD: Characterized by muscle weakness, brain abnormalities, and seizures.
- Walker-Warburg Syndrome: Characterized by muscle weakness, eye abnormalities, and brain abnormalities.
Causes[edit]
CMD is caused by mutations in various genes. These mutations affect proteins that are necessary for normal muscle function. CMD is usually inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis[edit]
The diagnosis of CMD is based on the clinical symptoms, family history, and confirmed by genetic testing. Other tests like muscle biopsy, MRI, and electromyography may also be used.
Treatment[edit]
There is currently no cure for CMD. Treatment is supportive and aims to improve quality of life. This may include physical therapy, respiratory support, and management of other medical complications.
Prognosis[edit]
The prognosis for individuals with CMD varies depending on the type of CMD and the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to respiratory complications.
See Also[edit]
References[edit]
<references />
| Muscular dystrophy | ||||||||
|---|---|---|---|---|---|---|---|---|
* Category
|
