DocSym
β
Searchsearch
Search
(J43.0) Macleod syndrome
More details coming soon
272 871 in individuals diagnosis macleod syndrome confirmed
186 590 deaths with diagnosis macleod syndrome
68% mortality rate associated with the disease macleod syndrome
Diagnosis macleod syndrome is diagnosed Men are 46.39% more likely than Women
199 729
Men receive the diagnosis macleod syndrome
140 282 (70.2 %)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
73 142
Women receive the diagnosis macleod syndrome
46 308 (63.3 %)Died from this diagnosis.
Risk Group for the Disease macleod syndrome - Men aged 55-59 and Women aged 60-64
In Men diagnosis is most often set at age 0-94
Less common in men the disease occurs at Age 95+Less common in women the disease occurs at Age 95+
In Women diagnosis is most often set at age 0-94
Disease Features macleod syndrome
Absence or low individual and public risk
Macleod syndrome - what does this mean
Macleod syndrome is an inherited disorder caused by mutations in the myh9 gene, which is responsible for the production of non-muscle myosin heavy chain ii-a. these mutations lead to the abnormal production of non-muscle myosin, resulting in a variety of symptoms, including kidney disease, hearing loss, thrombocytopenia, and cataracts.
What happens during the disease - macleod syndrome
Macleod syndrome is an inherited disorder caused by a genetic mutation in a gene known as the slc35a2 gene. this mutation affects the expression of certain proteins involved in the transport of carbohydrates across the cell membrane, resulting in a buildup of glycogen in the cells and disruption of normal cell function. symptoms of macleod syndrome include muscle weakness, developmental delay, and seizures.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Blood tests to check for anemia
- Urine tests to detect the presence of proteins
- Genetic testing
- CT scan of the abdomen
- Ultrasound of the liver
- MRI of the abdomen
- Liver biopsy
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of MacLeod Syndrome.
- Perform genetic testing to confirm the diagnosis.
- Prescribe medications to reduce the symptoms of MacLeod Syndrome.
- Provide lifestyle advice to manage the condition.
- Refer to a specialist for further assessment and management.
- Provide psychological support to help cope with the condition.
- Monitor the patient's progress and adjust treatment as needed.
- Educate the patient and family about MacLeod Syndrome.
18 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Macleod syndrome - Prevention
Macleod syndrome can be prevented by avoiding exposure to ultraviolet radiation, such as by wearing sunscreen and protective clothing when outdoors, and avoiding tanning beds. additionally, regular check-ups with a doctor can help to identify any potential issues early so that they can be treated promptly.