Congenital muscular dystrophy

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Congenital muscular dystrophy
File:Autosomal recessive - en.svg
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

The symptoms of CMD are usually noticeable at birth or in infancy. They include:

• Muscle weakness
• Motor delay
• Breathing problems
• Feeding difficulties
• Joint deformities

Types

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

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

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

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

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

• Muscular Dystrophy
• Genetic Disorders
• Neuromuscular Disorders

References

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Muscle atrophy