Facioscapulohumeral Muscular Dystrophy Can Be a Cause of Isolated Childhood Cognitive Dysfunction

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. (J Child Neurol 2006;21:252—253; DOI 10.2310/7010.2006.00054).

Get full access to this article

View all access options for this article.

References

Fitzsimmons RB : Facioscapulohumeral muscular dystrophy. Curr Opin Neurol 1999;12:501—511.

Padberg GW , Frants RR , Brouwer OF , et al: Facioscapulohumeral muscular dystrophy in the Dutch population . Muscle Nerve 1995;2:S81—S84.

Small RG : Coats' disease and muscular dystrophy. Trans Am Acad Ophthalmol Otolaryngol 1968;72:225—231.

Brouwer OF , Padberg GW , Wimenja C. , Frants RR : Facioscapulohumeral muscular dystrophy in early childhood. Arch Neurol 1994;51:387—394.

Matsuzaka T. , Sakuragawa N. , Terasawa K. , Kuwabara H. : Facioscapulohumeral dystrophy associated with mental retardation, hearing loss, and tortuosity of retinal arterioles . J Child Neurol 1986 ;1:218—233.

Funakoshi M. , Goto K. , Arahata K. : Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998;50:1791—1794.

Miura K. , Kumagai T. , Matsumoto A. , et al: Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. Neuropediatrics 1998;29:239—241.

Fisher J. , Upadhyaya M. : Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD) . Neuromuscul Disord 1997;7:55—62.

Orell RW , Tawil R. , Forrester J. , et al: Definitive molecular diagnosis of facioscapulohumeral muscular dystrophy. Neurology 1999;52: 1822—1826.

10.

Van Deutekom Jct , Lemmers RJ , Grewal PK , et al: Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 1996;5:581—590.

11.

Brouwer OF , Padberg GW , Bakker E. , et al: Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve 1995; 2:S67—S72.

12.

Grewal PK , Todd LC , van der Maarel S. , et al: FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates. Gene 1998;216:13—19.

13.

Van Geel M. , Heather LJ , Lyle R. , et al: The FSHD region on chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics 1999;61:55—65.

14.

Di Lazarro V. , Oliviero A. , Tonali PA , et al: Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2004;14:39—45.

15.

Tupler R. , Berardinelli A. , Barbierato L. , et al: Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 1996;33:366—370.

16.

Gabellini D. , Green MR , Tupler R. : Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle . Cell 2002;110:339—348.