RARE DISEASE HONG KONG

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Congenital Glaucoma

Name of disease:

Congenital Glaucoma

ICD-10 diagnosis code:

Q15.0

Causes:

Most cases of Angelman Syndrome are sporadic, which means they occur in people with no history of the disorder in their family. It is caused by the deletion or abnormal expression of UBE3A gene in chromosome 15.

Mode of inheritance:

Alström Syndrome can be sporadic or is inherited from parents in family in autosomal recessive pattern (3-5%).

Prevalence:

1/ 12,000 – 20,000

Diagnosis:

he diagnosis of Angelman Syndrome is based on clinical findings and detailed patient history. Specialized blood tests can be done to confirm about 80% of cases. Molecular genetic testing can also be used to detect mutation of UBE3A gene in chromosome 15

Age of onset:

Infancy or early childhood

Common signs and symptoms:

Severe developmental delay Learning disability Absence or near absence of spec Inability to coordinate voluntary movements Trembling with jerky movements of the arms and legs A distinct happy disposition and unprovoked episodes of laughter and smiling Easily excitable and hyperactive Seizures Sleeping disorde

Available treatments (medicinal and non-medicinal):

There is no curative therapy or medication at this moment although clinical trials are in progress. Current treatment is mainly directed towards the symptoms of patients. For example, anti-seizure drugs may be prescribed to control seizure.

Disease management tips:

The management of patients with Angelman Syndrome requires an experienced, multidisciplinary approach to tackle the signs and symptoms of Angelman Syndrome It is important to diagnose and treat children with Angelman syndrome as early as possible because of the possibly severe developmental delay and absence of speech. Special social support and occupational and speech therapy can be provided to diseased children. Patients may have feeding difficulties gastroesophageal reflux and therefore it is important to feed them by upright positioning. Although the patients may not be able to speak, special communication devices can be used such as voice-emitting device and computer picture-based system. Also, the patients may try to express their ideas with gestures so caregivers may understand their thoughts.

References:

https://rarediseases.org/rare-diseases/angelman-syndrome/ https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621

Other useful websites:

More about the disease:https://rarediseases.info.nih.gov/diseases/5810/angelman-syndrome Patient groups: Hong Kong Angelman Syndrome Foundationhttps://www.hkasf.org/en/ Angelman Syndrome Foundation https://www.angelman.org