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Allan Herndon Syndrome
Condition Overview: Allan-Herndon syndrome is an extremely rare inherited disorder that may be characterized by severe mental retardation, an impaired ability to form words and speak clearly (dysarthria), diminished muscle tone (hypotonia), and/or movement abnormalities.With the exception of poor muscle tone, most affected infants appear to develop normally during the first months of life. However, by about six months of age, affected infants may seem weak and have an inability to hold up the head. Due to hypotonia, severely reduced motor development, and other abnormalities, affected children may not develop the ability to walk or may walk with difficulty. Associated features often include underdevelopment (hypoplasia) and wasting (atrophy) of muscle tissue; weakness and stiffness of the legs (spastic paraplegia) with exaggerated reflexes (hyperreflexia); relatively slow, involuntary, purposeless, writhing movements (athetoid movements); and/or other movement abnormalities. Affected individuals may also have abnormalities of the skull and facial (craniofacial) region. Allan-Herndon syndrome is thought to be inherited as an X-linked recessive trait and therefore is typically fully expressed in males only. . |
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