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Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. [4] Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness ...
The exact pathophysiological causes of the disease are currently unclear, but there are developing theories. [8] Spongy degeneration can be diagnosed with neuroimaging techniques and urine examination. [9] There is no current treatment for spongy degeneration, but research utilising gene therapy to treat the disease is underway. [8]
Typical signs in dogs include hair loss and scaly skin. [21] Sporotrichosis is a fungal disease caused by Sporothrix schenckii that affects both dogs and humans. It is a rare disease in dogs, with cat and horse infections predominating in veterinary medicine. The disease in dogs is usually nodular skin lesions of the head and trunk. [22]
Canavan disease is a less-studied type of leukodystrophy that, like MLD and Krabbe disease, is also inherited in an autosomal recessive pattern. It is due to a mutation in the ASPA gene that encodes aspartoacylase , an enzyme needed to metabolize N-acetyl-L-aspartate (NAA).
Pemphigus foliaceus is the most common autoimmune skin disease in dogs, making up around one-third of all canine autoimmune disorders. [16] This disease usually affects areas of the ears and face. [9] Early symptoms are characterized by depigmentation of the nasal palate, dorsal cleft in the mouth, the ear, and the periocular area around the ...
The CIGNA panel is available for testing for parental/preconception screening or following chorionic villus sampling or amniocentesis and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, Gaucher disease, mucolipidosis IV, Neimann-Pick disease type A, Tay-Sachs disease, and torsion dystonia.
Despite similar symptoms and blood test results to Cushing's disease, evaluation of dogs with SARDS did not reveal any tumors in the pituitary or adrenal glands, [9] and recent work has indicated significant differences in the clinical and laboratory test parameters between the two diseases.
The diagnosis of Pelizaeus–Merzbacher disease is often first suggested after identification by magnetic resonance imaging of abnormal white matter (high T2 signal intensity, i.e. T2 lengthening) throughout the brain, which is typically evident by about 1 year of age, but more subtle abnormalities should be evident during infancy.