Specific genes that cause PCH3, PCH5 and PCH7 have not yet been identified.[3]
Although experts agree that PCH has a genetic cause, other causes (such as infectious or toxic) have been reported or suspected in some cases.[4]
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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Conditions with similar signs and symptoms from Orphanet
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Differential diagnosis includes progressive cerebello-cerebral atrophy (PCCA), infantile cerebral and cerebellar atrophy (ICCA), congenital disorders of glycosylation type 1A and D, phosphoserine aminotransferase deficiency, certain congenital mitochondrial disorders, Progressive encephalopathy with Edema Hypsarrhythmia and Optic atrophy (PEHO) syndrome, dystroglycanopathies like Walker-Warburg syndrome, MEB-disease, Fukuyama congenital muscular dystrophy, lissencephaly, X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum, congenital fibrosis of the extraocular muscles type 3 (CFEOM3) with extraocular involvement (see these terms) and acquired cerebellar hypoplasia in extreme premature births (<32 weeks) which may disrupt normal brain development.
Visit the
Orphanet disease page
for more information.
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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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