Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.
BACKGROUND
Facioscapulohumeral muscular dystrophy (FSHD) is associated with a deletion on chromosome 4q35. Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype.


OBJECTIVE
To examine patients with atypical phenotypes and an FSHD deletion on chromosome 4q35.


METHODS
Clinical characterization and genotype-phenotype correlation.


METHODS
University hospital.


METHODS
Forty-one symptomatic subjects with deletions on chromosome 4q35.


RESULTS
We found 6 patients with atypical FSHD. Three (from a single family with FSHD) had additional symptoms of chronic progressive external ophthalmoplegia (4q35 EcoRI/BlnI fragment size, 20 kilobase [kb]), and 3 patients (1 with sporadic disease and 2 from a single family) had facial-sparing scapulohumeral dystrophy (4q35 EcoRI/BlnI fragment size, 30 and 34 kb, respectively).


CONCLUSIONS
The clinical presentations in patients with FSHD-associated short fragments on chromosome 4q35 are not restricted to the classic FSHD form, but constitute a variety of clinical manifestations. There seems to be no clear correlation between the atypical subtype and the DNA fragment size due to the deletion.
Krasnianski
Michael
M
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Salle), Germany. sekretariat.neurologie@medizin.uni-halle.de
Eger
Katharina
K
Neudecker
Stephan
S
Jakubiczka
Sibylle
S
Zierz
Stephan
S
D000293:Adolescent; D000328:Adult; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics; D010641:Phenotype