(G70.2) Congenital and developmental myasthenia

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631 067 in individuals diagnosis congenital and developmental myasthenia confirmed
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28 758 deaths with diagnosis congenital and developmental myasthenia
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5% mortality rate associated with the disease congenital and developmental myasthenia

Diagnosis congenital and developmental myasthenia is diagnosed Women are 9.78% more likely than Men

284 676

Men receive the diagnosis congenital and developmental myasthenia

14 286 (5.0 %)

Died from this diagnosis.

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346 391

Women receive the diagnosis congenital and developmental myasthenia

14 472 (4.2 %)

Died from this diagnosis.

Risk Group for the Disease congenital and developmental myasthenia - Men aged 60-64 and Women aged 55-59

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In Men diagnosis is most often set at age 0-94
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Less common in men the disease occurs at Age 95+Less common in women the disease occurs at Age 95+
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In Women diagnosis is most often set at age 0-94

Disease Features congenital and developmental myasthenia

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Non-contagious
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Moderate individual risk, low public risk
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Congenital and developmental myasthenia - what does this mean

Congenital and developmental myasthenia is a rare neuromuscular disorder that is caused by a genetic mutation in the acetylcholine receptor, resulting in a weakened ability to transmit signals between the nerves and muscles. this leads to muscle weakness and fatigue, particularly in the face and neck, as well as difficulty with swallowing and speaking.

What happens during the disease - congenital and developmental myasthenia

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Clinical Pattern

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How does a doctor diagnose

  • Physical examination to assess muscle strength
  • Electromyography (EMG) to measure electrical activity in the muscles
  • Blood tests to check for antibodies associated with myasthenia
  • Single-fiber electromyography (SFEMG) to measure the electrical activity of individual muscle fibers
  • Nerve conduction studies to measure the speed of electrical signals travelling along the nerves
  • Imaging tests such as CT scans or MRI scans to check for any abnormalities in the brain and spine
  • Genetic testing to check for any changes in genes associated with myasthenia
Additions:
  • Tensilon test to measure the response to a drug used to treat myasthenia
  • Lumbar puncture to check for antibodies in the cerebrospinal fluid

Treatment and Medical Assistance

Main goal of the Treatment: To prevent, reduce, and manage the symptoms of Congenital and Developmental Myasthenia.
  • Prescribe medications to help manage muscle weakness and fatigue.
  • Perform physical therapy to strengthen muscles and improve coordination.
  • Provide nutritional counseling to ensure proper nutrition.
  • Provide psychological support to help the patient cope with the condition.
  • Refer to specialists for further evaluation and treatment.
  • Perform regular check-ups to monitor the patient's progress.
  • Educate the patient and family about the condition and how to manage it.
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17 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Congenital and developmental myasthenia - Prevention

The best way to prevent congenital and developmental myasthenia is to ensure that pregnant mothers receive proper prenatal care, including regular checkups and screenings. additionally, it is important to ensure that infants receive all recommended immunizations, as this can help to reduce the risk of developing this condition.

Main symptoms of the disease congenital and developmental myasthenia

Muscle pain

(Muscle ache, Muscular soreness, Muscular discomfort, Muscle tenderness, Muscle strain, Muscle spasm, Muscle twinge, Muscle stiffness, Muscle cramp, Muscle fatigue)

Muscle pain is a symptom of an underlying medical condition. It can range from a dull ache to a sharp, burning sensation and can be localized to one area or throughout the body. It often develops gradually, starting with mild discomfort that progresses over time. Muscle pain can be caused by a varie...

Age: 1 to 100Accociated with 88 diseases

Alogia

(Poverty of speech, Poverty of thought, Alogic, Alogical, Alogically, Alogism, Alogistic, Alogistical, Alogize, Alogizing, Aphasia, Aphasiac, Aphasic, Aphasically, Aphasy, Aphemia, Aphemic, Aphemically, Aphemize, Aphemizing, Apraxia, Apraxic, Apraxica...)

Alogia is a symptom of a mental health disorder characterized by a decrease in speech fluency and productivity. It is typically characterized by brief, empty responses to questions and a lack of spontaneous conversation. Alogia can manifest as difficulty finding the right words to express oneself, a...

Age: 1 to 100Accociated with 8 diseases

Muscle weakness

(Aching muscles, Lack of strength, Muscular fatigue, Decreased muscle power, Reduced muscle tone, Muscle exhaustion, Muscle debility, Lack of muscle control, Lack of muscular coordination, Loss of muscle strength)

Muscle weakness is a decrease in the strength of the muscles that can lead to difficulty in performing everyday tasks. It can manifest in a variety of ways, including fatigue, difficulty walking, and reduced range of motion. It can develop gradually or suddenly, and can be caused by a variety of med...

Age: 0 to 99Accociated with 47 diseases

Voice disorder

(Ache, Pain, Discomfort, Soreness, Tenderness, Distress, Pang)

Voice disorder is a disruption in the production of speech. It can cause hoarseness, breathiness, roughness, and other changes in the quality and pitch of the voice. It can develop gradually or suddenly, and can range from mild to severe. Symptoms may include difficulty speaking, pain when speaking,...

Age: 1 to 100Accociated with 9 diseases

Double vision

(Blurred vision, Diplopia, Halos, Optic neuritis, Ocular migraine, Strabismus, Visual disturbances, Ocular palsy, Ocular myasthenia, Retinal detachment, Convergence insufficiency)

Double vision is a condition in which two images of a single object are seen. It can be caused by a variety of conditions, including muscle imbalance, refractive errors, and neurological disorders. Symptoms can range from mild to severe and may include headaches, dizziness, and difficulty focusing. ...

Age: 1 to 100Accociated with 17 diseases

Upper eyelid droop

(Eyelid ptosis, Eyelid sagging, Eyelid drooping, Eyelid sinking, Eyelid descent, Eyelid falling, Eyelid lowering, Eyelid droopiness)

Upper eyelid droop is a condition in which the eyelid appears to be drooping or sagging. It may be accompanied by difficulty opening the eye. It can be caused by trauma, neurological conditions, or aging. It can manifest as a drooping of the eyelid, a decrease in the amount of skin above the eyelid,...

Age: any ageAccociated with 10 diseases

Fatigue

(Tiredness, Exhaustion, Lethargy, Lassitude, Weariness, Burn-out, Weakness, Malaise, Lack of energy, Lack of strength, Listlessness)

Fatigue is a common symptom that can range from mild to severe. It is usually characterized by a feeling of tiredness and exhaustion that can range from mild to severe. It can develop gradually over time or suddenly, and can be caused by a variety of factors, including physical or mental stress, sle...

Age: 1 to 100Accociated with 157 diseases

Muscle spasms

(Muscle contractions, Muscle cramps, Muscle twitching, Muscular jerking, Muscle twitches, Muscle twitchings, Muscular contractions, Muscle cramping)

Muscle spasms are sudden, involuntary contractions of a muscle or group of muscles. They can range from mild twitches to severe, painful cramps. Symptoms usually start with an area of tightness or a knot in the muscle, followed by a sudden and forceful contraction. Spasms can be caused by dehydratio...

Age: any ageAccociated with 14 diseases

Eyelid omission

(Eyelid droop, Eyelid ptosis, Eyelid lagophthalmos, Eyelid drooping, Eyelid defect, Eyelid sagging, Eyelid dropping, Eyelid weakness, Eyelid slippage, Eyelid laxity, Eyelid sag, Eyelid lapse, Eyelid droopiness, Eyelid droopage, Eyelid flaccidity)

Eyelid omission is a condition where the eyelid does not completely close. It can be present at birth or develop later in life. Symptoms may include dry eyes, irritation, sensitivity to light, blurry vision, and decreased vision. It can be caused by trauma, infections, tumors, and certain neurologic...

Age: 1 to 100Accociated with 9 diseases