User:Amir K Richardson/sandbox
Diagnosing (therapy/treatment/testing) Amir:
- Differential Diagnosis: Patients who present with indicative clinical symptoms will be considered for MRI and genetic testing. If PMD is suspected, a genetic history is taken to determine the patient's potential risk for PMD. If there is a family history of the disease, especially the presence of affected male relatives, females can receive pre-natal and carrier testing[1]. Amir K Richardson (talk) 20:17, 30 November 2016 (UTC)
- MRI: Monitoring of postnatal brain development during the first 3-24 months of development are key in early diagnosis of this disease. Abnormal or absent myelin levels in the corpus callosum can usually be seen by a reduction in size of the white matter when compared to a normal infant[1]. Amir K Richardson (talk) 20:17, 30 November 2016 (UTC)
- Genetic Testing: FISH analysis can be used to look for known mutations in affected males or carrier females. Sequence analysis for deletions, missense, and other mutations can be used for diagnosis in males. A genetic history of a patient is usually taken in order to determine the possibility of female carriers and the need of a prenatal diagnosis. Affected males are usually infertile but their presence in a tree can help indicate carriers[1]. Amir K Richardson (talk) 20:17, 30 November 2016 (UTC)
- Treatment: A team medical professionals from multiple disciplines will be necessary for monitoring and managing the symptoms. Careful attention must be paid to affected infants with swallowing and breathing difficulties; some infants require assisted feedings. Medicines and physical therapy can be utilized to manage seizures and spasticity in affected patients, as well as using wheelchairs along with physical therapy to manage any severe scoliosis[1].Amir K Richardson (talk) 20:15, 30 November 2016 (UTC)