Johnson–Munson syndrome
| Johnson–Munson syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | Genetics, Neurology |
| Symptoms | Muscle weakness, Ataxia, Seizures, Developmental delay |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | Cerebral palsy, Muscular dystrophy |
| Prevention | |
| Treatment | Supportive care, Physical therapy, Anticonvulsants |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
Johnson–Munson syndrome is a rare genetic disorder characterized by intellectual disability, microcephaly, short stature, and distinctive facial features. The syndrome was first described by Johnson and Munson in 1989.
Etymology
The syndrome is named after the two doctors, Johnson and Munson, who first described the condition in 1989.
Symptoms and Signs
The main symptoms of Johnson–Munson syndrome include:
- Intellectual disability
- Microcephaly (small head size)
- Short stature
- Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin
Causes
Johnson–Munson syndrome is a genetic disorder. It is caused by mutations in a specific gene, although the exact gene is not yet known.
Diagnosis
Diagnosis of Johnson–Munson syndrome is based on the presence of the characteristic symptoms and signs. Genetic testing may also be used to confirm the diagnosis.
Treatment
There is currently no cure for Johnson–Munson syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include physical therapy, special education, and other supportive services.
Prognosis
The prognosis for individuals with Johnson–Munson syndrome varies depending on the severity of the symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.
See also
References
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