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Michael Krasnianski, MD; Katharina Eger, MD; Stephan Neudecker, MD; Sibylle Jakubiczka, PhD; Stephan Zierz, MD

Arch Neurol. 2003;60:1421-1425.

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.

Design  Clinical characterization and genotype-phenotype correlation.

Setting  University hospital.

Patients  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.

From the Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany (Drs Krasnianski, Eger, Neudecker, and Zierz), and the Department of Human Genetics, Otto-von-Guericke-University, Magdeburg, Germany (Dr Jakubiczka).

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