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.
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.
Authors: Marcus Stephan Kriwalsky; Marcus Deschauer; Alexander Walter Eckert; Johannes Schubert; Stephan Zierz Journal: Oral Maxillofac Surg Date: 2008-12
Authors: Peter Reilich; Nicolai Schramm; Benedikt Schoser; Peter Schneiderat; Nicola Strigl-Pill; Josef Müller-Höcker; Wolfram Kress; Andreas Ferbert; Sabine Rudnik-Schöneborn; Johannes Noth; Hanns Lochmüller; Joachim Weis; Maggie C Walter Journal: J Neurol Date: 2010-02-10 Impact factor: 4.849