Abstract:
:Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. Extramuscular associations include sensorineural hearing loss, mental retardation, and epilepsy. These manifestations are commonly found in those with large deletions and early onset of weakness. A 26-year-old patient with a long-standing history of hearing loss, learning disabilities, and epilepsy presented with new-onset weakness and an elevated serum creatinine kinase level. Genetic testing confirmed sporadic facioscapulohumeral muscular dystrophy with a fragment length of 12 kilobases (normal > 35 kilobases). This unique presentation suggests that facioscapulohumeral muscular dystrophy should be considered in the differential diagnosis of children with cognitive impairment, seizures, and hearing loss.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Hobson-Webb LD,Caress JBdoi
10.2310/7010.2006.00054subject
Has Abstractpub_date
2006-03-01 00:00:00pages
252-3issue
3eissn
0883-0738issn
1708-8283journal_volume
21pub_type
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