Mucopolysaccharidosis Type VI
Storage diseases are a group of degenerative neurologic diseases associated with neuronal cell death or dysfunction due to an inborn error of metabolism and absence of a vital enzyme necessary to break down 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: 1 month 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:
Posture and Appearance
Failure to thrive
Disproportionate dwarfism (medial deviation of the phalanges, overextension of the carpal joints, and facial dysmorphia with a broad dome-shaped skull)
Movement
Short and stilted hindlimb gait
Difficulty walking
Progressive weakness
Painful Reactions
Pain on extension of the neck
Muscle Atrophy
Generalized muscle atrophy
Other
Bilateral corneal opacities
Joint laxity
Left systolic murmur
Posture and Appearance
Failure to thrive
Disproportionate dwarfism (medial deviation of the phalanges, overextension of the carpal joints, and facial dysmorphia with a broad dome-shaped skull)
Movement
Short and stilted hindlimb gait
Difficulty walking
Progressive weakness
Painful Reactions
Pain on extension of the neck
Muscle Atrophy
Generalized muscle atrophy
Other
Bilateral corneal opacities
Joint laxity
Left systolic murmur
Diffuse central nervous system
Autosomal recessive inheritance (arylsulphatase B (ARSB) mutation)
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