DogMatchUp
Health Condition

Mucopolysaccharidosis Type IIIB

Mucopolysaccharidosis Type IIIB (MPS IIIB) is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-N-acetylglucosaminidase, leading to progressive neurological decline.

Detailed Description

MPS IIIB results from a mutation in the NAGLU gene, causing accumulation of heparan sulfate in cells. This leads to progressive neurodegeneration, ataxia, behavioral changes, and ultimately, severe disability or death. The disease is progressive and fatal, with no cure.

Common Symptoms

  • Progressive ataxia
  • Behavioral changes
  • Loss of learned behaviors
  • Seizures
  • Visual impairment
  • Incontinence

Management Options

  • Supportive care
  • Physical therapy
  • Environmental modifications
  • Anti-seizure medications

Frequently Asked Questions

Can MPS IIIB be prevented?

Yes, through DNA testing and responsible breeding, affected puppies can be avoided.

Is there a cure or effective treatment?

No cure exists; management is supportive only.

How early can carriers be identified?

Carriers can be identified at any age via DNA testing.

Are all dogs at risk?

Only those inheriting two copies of the mutated gene are affected, but carrier frequency can be high in some breeds.

What should I do if my dog is diagnosed?

Work with your veterinarian for supportive care and consider genetic counseling for breeding decisions.

Condition Details

📅

Typical Age of Onset

2–4 years

📋

Testing Available

Yes

🔍

Diagnosing Methods

Genetic testing; Clinical neurological examination; MRI; Urine glycosaminoglycan analysis

🛡️

Preventative Measures

DNA testing of breeding stock; Avoid breeding carriers together

🔗

Related Conditions

Other lysosomal storage diseases, Epilepsy, Degenerative myelopathy