About Congenital-onset Steinert myotonic dystrophy
What is Congenital-onset Steinert myotonic dystrophy?
Congenital-onset Steinert myotonic dystrophy is a rare form of muscular dystrophy that is present at birth. It is caused by a genetic mutation in the DMPK gene, which affects the production of a protein called myotonin protein kinase. Symptoms of this condition include muscle weakness, myotonia (muscle stiffness), and delayed development. Other symptoms may include vision and hearing problems, heart defects, and intellectual disability. Treatment typically involves physical and occupational therapy, medications, and lifestyle modifications.
What are the symptoms of Congenital-onset Steinert myotonic dystrophy?
The symptoms of Congenital-onset Steinert myotonic dystrophy vary from person to person, but may include:
-Weakness in the muscles of the face, neck, and upper arms
-Difficulty swallowing
-Difficulty speaking
-Difficulty breathing
-Muscle wasting
-Delayed development
-Intellectual disability
-Seizures
-Heart problems
-Vision and hearing problems
-Gastrointestinal problems
-Skin problems
-Sleep disturbances
-Joint contractures
-Scoliosis
-Fatigue
What are the causes of Congenital-onset Steinert myotonic dystrophy?
Congenital-onset Steinert myotonic dystrophy is caused by a genetic mutation in the DMPK gene. This gene mutation is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent in order to develop the condition.
What are the treatments for Congenital-onset Steinert myotonic dystrophy?
1. Medications: Medications such as mexiletine, quinine, and phenytoin can be used to reduce the severity of symptoms.
2. Physical Therapy: Physical therapy can help improve muscle strength and coordination.
3. Occupational Therapy: Occupational therapy can help improve daily living skills and independence.
4. Speech Therapy: Speech therapy can help improve communication skills.
5. Assistive Devices: Assistive devices such as wheelchairs, walkers, and braces can help improve mobility.
6. Surgery: Surgery may be necessary to correct any deformities or to improve muscle function.
7. Genetic Counseling: Genetic counseling can help families understand the condition and make informed decisions about their care.
What are the risk factors for Congenital-onset Steinert myotonic dystrophy?
1. Family history of Steinert myotonic dystrophy
2. Advanced maternal age
3. Genetic mutation in the DMPK gene
4. Exposure to certain environmental toxins
5. Low levels of certain vitamins and minerals
6. Exposure to certain medications during pregnancy
Is there a cure/medications for Congenital-onset Steinert myotonic dystrophy?
At this time, there is no cure for Congenital-onset Steinert myotonic dystrophy. However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle spasms, pain, and fatigue, as well as medications to help with breathing difficulties. Additionally, physical and occupational therapy can help improve muscle strength and coordination.