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Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. [1] It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies .
Leukodystrophy is characterized by specific symptoms, including decreased motor function, muscle rigidity, and eventual degeneration of sight and hearing. While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset.
These symptoms first start out with dysfunctions of the autonomic nervous system which result in symptoms such as abnormal functioning of both the bladder and bowel, recurrent blood pressure drops whenever patients stand up, and male erectile dysfunction. [8] [9] [10] Rarely, anhidrosis might also occur alongside these symptoms. [9] [8] [11] [10]
Leukoencephalopathy with neuroaxonal spheroids (LENAS), also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) [1] is an extremely rare kind of leukoencephalopathy and is classified as a neurodegenerative disease.
Metachromatic leukodystrophy has an autosomal recessive pattern of inheritance. MLD has an autosomal recessive inheritance pattern. The inheritance probabilities per birth are as follows: [8] If both parents are carriers: 25% (1 in 4) of children will have the disease; 50% (2 in 4) of children will be carriers, but unaffected
Life expectancy for type A is approximately 10 to 20 years. These symptoms are seen in CS type 1 children. Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth.
Related disorders in the same disease spectrum as HDLS include Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy), and a type of leukodystrophy with pigment-filled macrophages called pigmentary orthochromatic leukodystrophy (POLD). [3] In addition to white matter disease, Nasu-Hakola causes bone ...
The neurological disorders and symptoms which occur with VWM are not specific to countries; they are the same all over the world. [4] Neurological abnormalities may not always be present in those who experience onset as adults. Symptoms generally appear in young children or infants who were previously developing fairly normally. [citation needed]