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黏多醣症第3型

Name of disease:

Mucopolysaccharidoses (MPS) - Type 3

ICD-10 diagnosis code:

E76.3

Causes:

Cases of e can run in families and are inherited in autosomal recessive pattern. It is caused by the disruptions or mutations of SGSH gene

Mode of inheritance:

Mucopolysaccharidosis Type 3A is inherited from parents in family in autosomal recessive pattern.

Prevalence:

1/100,000

Diagnosis:

The diagnosis of mucopolysaccharidosis type 3A is based on a biochemical genetic test called an enzyme assay Molecular genetic testing for SGSH gene mutation can also be done to confirm the diagnosis

Age of onset:

Early childhood

Common signs and symptoms:

Progressive dementia Aggressive behavior Hyperactivity Seizures Deafness Loss of vision Inability to sleep for more than a few hours at a time Delayed speech and behavioral problems Restlessness Features of autism spectrum disorder

Available treatments (medicinal and non-medicinal):

Currently, there is no cure or standard treatment for people with mucopolysaccharidosis Type 3A. Medications are used to relieve symptoms to improve quality of life. For example, anticonvulsants are used if patients have seizure.

Disease management tips:

The management of mucopolysaccharidosis type 3A requires a multidisciplinary team of specialists to enhance the quality of life of patients. Patients may suffer from inability to sleep. To relieve the symptoms, melatonin can be used, and a bedtime routine can be established for better sleeping quality. Some patients may have excessive mucus, and limiting milk, sugar and dairy products may help. For patients with hyperactivity and seizure, they might receive occupational therapy or physiotherapy. For diseased children who have the delayed speech and behavioral problems, they might seek assistance from speech therapist in order to improve the speech ability.

References:

https://rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii/ https://rarediseases.info.nih.gov/diseases/7071/mucopolysaccharidosis-type-iiia

Other useful websites:

More about the disease:https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iii/Patient groups: Hong Kong Mucopolysaccharidoses & Rare Genetic Diseases Mutual Aid Grouhttp://mps.org.hk/en/home/