Mucopolysaccharidosis Type IIIA
Storage diseases are a group of degenerative neurologic diseases associated with neuronal cell death or dysfunction due to an inborn error of metabolism and the absence of a vital enzyme necessary to breakdown an endogenous body substance. These substances then accumulate within the neuron or other cells associated with the nervous system and eventually cause cellular dysfunction. Multifocal clinical signs are also common. In some animals with certain storage diseases, visceral organ enlargement may be present due to accumulation of metabolic by-products in these tissues..
Mucopolysaccharidosis is divided into differing disease subtypes (Type I: Hurler's syndrome; Type III: Sanfilippo syndrome, and Type VI: Maroteaux-Lamy syndrome).
Mucopolysaccharidosis is divided into differing disease subtypes (Type I: Hurler's syndrome; Type III: Sanfilippo syndrome, and Type VI: Maroteaux-Lamy syndrome).
Age of Onset: 3 years of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
Clinical signs associated with many of the storage diseases are invariably progressive resulting in significant clinical deterioration and dysfunction. Clinical signs progress over the course of 1-2 years.
Clinical signs associated with many of the storage diseases are invariably progressive resulting in significant clinical deterioration and dysfunction. Clinical signs progress over the course of 1-2 years.
Clinical Signs:
Movement
Ataxia
Dysmetria
"Wide based" stance
Truncal sway
Coarse tremor associated with movement (seemed to be worse with eating)
Unable to climb stairs
Fall frequently
:
Proprioception
Proprioceptive deficits in all limbs
Cranial Nerves
Loss of vestibulo-ocular reflexes
Spinal Reflexes
Exaggerated patellar reflex
Reduced withdrawal reflexes of pelvic limbs
Movement
Ataxia
Dysmetria
"Wide based" stance
Truncal sway
Coarse tremor associated with movement (seemed to be worse with eating)
Unable to climb stairs
Fall frequently
:
Proprioception
Proprioceptive deficits in all limbs
Cranial Nerves
Loss of vestibulo-ocular reflexes
Spinal Reflexes
Exaggerated patellar reflex
Reduced withdrawal reflexes of pelvic limbs
Multifocal CNS
Autosomal recessive mutation in N-acetyl-alpha-D-glucosaminidase (NAGLU) gene
For breed specific genetic testing, click the link(s) below:
netapps.vet.upenn.edu/PennGen/SampleTesting/GeneticsTest.aspx?testid=23
www.animalabs.com/shop/dog/mucopolysaccharidosis-iiib-mps3b--schipperke-dog-type/
For breed specific genetic testing, click the link(s) below:
netapps.vet.upenn.edu/PennGen/SampleTesting/GeneticsTest.aspx?testid=23
www.animalabs.com/shop/dog/mucopolysaccharidosis-iiib-mps3b--schipperke-dog-type/
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