(G71.2) Congenital myopathies

More details coming soon

Icon
325 177 in individuals diagnosis congenital myopathies confirmed
Icon
55 116 deaths with diagnosis congenital myopathies
Icon
17% mortality rate associated with the disease congenital myopathies

Diagnosis congenital myopathies is diagnosed Men are 28.56% more likely than Women

209 018

Men receive the diagnosis congenital myopathies

34 857 (16.7 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
116 159

Women receive the diagnosis congenital myopathies

20 259 (17.4 %)

Died from this diagnosis.

Risk Group for the Disease congenital myopathies - Men aged 5-9 and Women aged 60-64

Icon
In Men diagnosis is most often set at age 0-89
Icon
Less common in men the disease occurs at Age 90-95+Less common in women the disease occurs at Age 95+
Icon
In Women diagnosis is most often set at age 0-94

Disease Features congenital myopathies

Icon
Absence or low individual and public risk
Icon

Congenital myopathies - what does this mean

Congenital myopathies are a group of muscle diseases that are present at birth and are caused by genetic mutations that affect the development of muscle fibers, resulting in muscle weakness and wasting. they can also be caused by metabolic disorders, which can lead to a build-up of toxins in the muscles.

What happens during the disease - congenital myopathies

Congenital myopathies are a group of inherited muscle diseases caused by genetic mutations that lead to muscle weakness and wasting. these mutations affect the proteins involved in muscle structure and function, leading to impaired muscle contraction, decreased muscle strength, and decreased muscle tone. the specific genetic mutations involved in each type of myopathy vary, but they all lead to a disruption of muscle structure and function.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Physical examination
  • Muscle biopsy
  • Genetic testing
  • Electromyography
  • Blood tests
  • Imaging tests
  • Nerve conduction studies

Treatment and Medical Assistance

Main goal of the treatment: To reduce symptoms and improve quality of life for those suffering from congenital myopathies.
  • Physical therapy to improve muscle strength and flexibility
  • Occupational therapy to help with daily activities
  • Speech therapy to improve communication
  • Assistive devices to help with mobility
  • Medications to reduce pain and inflammation
  • Surgery to correct deformities or improve mobility
Icon
23 Days of Hospitalization Required
Icon
Average Time for Outpatient Care Not Established

Congenital myopathies - Prevention

Congenital myopathies can be prevented by avoiding environmental exposures to toxins, such as cigarette smoke, alcohol, and drugs, during pregnancy. additionally, maintaining a healthy diet and lifestyle, and getting regular prenatal care, can help to reduce the risk of congenital myopathies.