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Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), [1] is a rare form of autosomal recessive congenital muscular dystrophy. [2]
Arthur Earl Walker (March 12, 1907 – January 1, 1995) was a Canadian-born American neurosurgeon, neuroscientist and epileptologist remembered for the eponymous syndromes Dandy–Walker syndrome, Dandy–Walker-like syndrome [1] and Walker–Warburg syndrome. During his career he published over 400 research articles and 8 books.
Miller–Dieker syndrome [24] ( 247200) LISX1: lissencephaly due to doublecortin (DCX) gene mutation ( 300121) lissencephaly, type 1, isolated, without other known genetic defects; Cobblestone (or Type 2) lissencephaly: Walker–Warburg syndrome ( 236670), also called HARD(E) syndrome; Fukuyama syndrome ( 253800) Muscle–eye–brain disease ...
In 1971 Warburg and her research partner Arthur Earl Walker published the symptoms of an eye disease which they named Walker–Warburg syndrome; the syndrome is a form of autosomal recessive congenital muscular dystrophy. [2] She received the Tagea Brandt Scholarship in 1980 [4] and Synoptik Foundation's Honorary Award in 1996. [1]
Walker–Warburg syndrome at the beginning a progressive weakness and low muscle tone at birth or during early infancy; small muscles; the majority of affected children do not live more than 3 years of age. Eye structure problems are present, with accompanying visual impairment.
α-Dystroglycanopathies (Walker–Warburg syndrome, muscle-eye-brain disease) Laminopathies; Distal muscular dystrophy
Of note, hydrocephalus in infants can occur as part of a syndrome, and therefore patients may present with other characteristic symptoms. [10] An example of one such syndrome is the Walker-Warburg syndrome, in which patients may also have holoprosencephaly and several other cranial defects.
MEB is phenotypically similar to the Walker–Warburg syndrome (WWS), both disorders are congenital muscular dystrophy. In 1990, Santavuori argued to distinct MEB from WWS, since MEB is specifically involving muscle weakness and there is a relatively long survival for MEB patients. [40]