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Atypical Phenotypes in Patients with Facioscapulohumeral Muscular Dystrophy 4Q35 Deletion

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Atypical Phenotypes in Patients with Facioscapulohumeral Muscular Dystrophy 4Q35 Deletion ORIGINAL CONTRIBUTION Atypical Phenotypes in Patients With Facioscapulohumeral Muscular Dystrophy 4q35 Deletion Michael Krasnianski, MD; Katharina Eger, MD; Stephan Neudecker, MD; Sibylle Jakubiczka, PhD; Stephan Zierz, MD Background: Facioscapulohumeral muscular dystro- Results: We found 6 patients with atypical FSHD. Three phy (FSHD) is associated with a deletion on chromosome (from a single family with FSHD) had additional symp- 4q35. Recent studies have shown that this deletion is found toms of chronic progressive external ophthalmoplegia (4q35 in patients with other phenotypes in addition to those with EcoRI/BlnI fragment size, 20 kilobase [kb]), and 3 pa- the classic Landouzy-Dejerine FSHD phenotype. tients (1 with sporadic disease and 2 from a single family) had facial-sparing scapulohumeral dystrophy (4q35 EcoRI/ Objective: To examine patients with atypical pheno- BlnI fragment size, 30 and 34 kb, respectively). types and an FSHD deletion on chromosome 4q35. Conclusions: The clinical presentations in patients with Design: Clinical characterization and genotype- FSHD-associated short fragments on chromosome 4q35 phenotype correlation. are not restricted to the classic FSHD form, but consti- tute a variety of clinical manifestations. There seems to Setting: University hospital. be no clear correlation between the atypical subtype and the DNA fragment size due to the deletion. Patients: Forty-one symptomatic subjects with dele- tions on chromosome 4q35. Arch Neurol. 2003;60:1421-1425 ACIOSCAPULOHUMERAL mus- zyme cleavage with EcoRI alone and EcoRI/ cular dystrophy (FSHD) is BlnI allows the distinction of the 4q35 one of the most common locus from a homologous locus on chro- forms of familial muscular mosome 10q26 in most individuals. The dystrophy, with an esti- EcoRI/BlnI fragments in the range of 10 to mated incidence of 1:20000.1 The classic 35 kb on chromosome 4q35 are assumed F 2 description of Landouzy and Dejerine to be disease associated and can be de- from 1884 still constitutes the fundamen- tected by probe p13E-11 with a test sen- tal FSHD clinical diagnostic criteria.3 sitivity of 95% and a specificity approach- The onset of symptoms in FSHD var- ing 100% at the 34-kb level.4 Sporadic cases ies from infancy to middle age. The de- can occur and are presumably the result gree of involvement ranges from mini- of new mutations.5 mal facial weakness to severe generalized Recent studies have shown that the palsies. Facioscapulohumeral muscular 4q35 deletion is found in patients with the dystrophy initially affects the facial and classic form of FSHD and in patients with scapular muscles and upper-arm and foot phenotypes such as the facial-sparing form dorsiflexion, and later affects the proxi- of FSHD (SHD),6 limb-girdle muscular mal hip muscles. The course usually dystrophy,7 distal myopathy,8 or asym- From the Department progresses slowly; approximately 20% of metric brachial weakness.7 The present of Neurology, patients eventually become wheelchair de- study describes 6 patients from 3 unre- Martin-Luther-University pendent.1 lated families with atypical FSHD and par- Halle-Wittenberg, Halle Facioscapulohumeral muscular dys- tially undescribed phenotypes. (Saale), Germany trophy is an autosomal dominant inher- (Drs Krasnianski, Eger, METHODS Neudecker, and Zierz), and the ited disorder and is linked in 95% of cases Department of Human Genetics, to chromosome 4q35. A deletion of mul- The 6 patients described in this report were Otto-von-Guericke-University, tiple copies of a tandem repeat consisting selected from 41 consecutive symptomatic Magdeburg, Germany of 3.3-kilobase (kb) units (D4Z4) is asso- patients in whom the FSHD deletion could be (Dr Jakubiczka). ciated with the disease. Restriction en- demonstrated. We extracted DNA from the (REPRINTED) ARCH NEUROL / VOL 60, OCT 2003 WWW.ARCHNEUROL.COM 1421 ©2003 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/23/2021 Clinical Presentations in 6 Patients With Non–Landouzy-Dejerine Phenotype Subtype, EcoRI/BlnI Patient No. Sex/Age, y Fragment Length, kb Typical Presentations Atypical Presentations FSHD with CPEO F1-1 M/50 20 FSHD CPEO F1-2 M/15 20 Winged scapula; lumbar hyperlordosis CPEO F1-3 F/15 20 Winged scapula; lumbar hyperlordosis CPEO SHD F2-1 F/61 34 SHD No facies myopathica F2-2 F/60 34 SHD No facies myopathica; severe myalgia S1 M/29 30 SHD No facies myopathica; severe myalgia Abbreviations: CPEO, chronic progressive external ophthalmoplegia; F1, family 1; F2, family 2; FSHD, facioscapulohumeral muscular dystrophy; kb, kilobase; S1, sporadic case; SHD, facial-sparing scapulohumeral dystrophy. RESULTS Of 41 patients with FSHD with typical deletions, we iden- tified 6 (2 from 1 family, 3 from 1 family, and 1 sporadic case) with atypical (no Landouzy-Dejerine phenotype) clinical features (Table). These atypical phenotypes could be classified into subgroups. FSHD WITH CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Three patients from a single family (F1) showed the typi- cal FSHD phenotype associated with additional chronic progressive external ophthalmoplegia (CPEO). Patient F1-1 A 50-year-old man was referred for bilateral arm and shoulder girdle weakness since 25 years of age and slowly progressive ptosis without double vision throughout his lifetime. The family history was remarkable for leg weakness in his grandfather. His parents and grandparents were dead, and his only rela- tives were 2 children. In both children, ptosis and impaired ocular movements were observed (patients F1-2 and F1-3). The neurological examination revealed facial weakness, bilateral ptosis, oculomotor impair- ment (restricted upward gaze with the right eyeball, deviation to nasal, and minimal restricted right eyeball Figure 1. Photograph of patients 1 and 2 from family 1 shows bilateral abduction), symmetric-predominant proximal arm and scapular winging. shoulder girdle paresis and atrophy, bilateral scapular winging, lumbar hyperlordosis, prominent foot drop, peripheral blood leukocytes by means of standard procedures. and moderate hip flexor paresis (Figure 1). The serum For detection of 4q35 deletions, DNA was cleaved with EcoRI creatine kinase (CK) level was elevated (320 U/L; refer- and EcoRI/BlnI and electrophoretically separated on 0.7% aga- ence range, Ͻ80 U/L). Cranial magnetic resonance rose gels in 1ϫ TAE (Tris–acetic acid–EDTA) buffer for 40 imaging findings were normal. Serum lactate level was hours at 1.2 V/cm. ␭ DNA cut with HindIII or Xhol and marker within the reference range at rest and upon bicycle 19 (MBI Fermentas GmbH, St Leon–Roth, Germany) were exercise. Electromyography findings showed reduced used as size markers. The DNA was transferred to membranes amplitude and duration of motor unit action poten- (Hybond N+; Amersham Biosciences, Freiburg, Germany) and tials (MUAPs). Results of a muscle biopsy demon- hybridized with radioactively labeled probe p13E-11 strated prominent myopathic changes without ragged (D4F104S1). Bands were then visualized by means of autoradi- ography. To rule out a deletion on chromosome 4q35, the red fibers and histopathological features of other neu- BglII/BlnI dosage test was performed as described previously.9 romuscular diseases. There were no singular or mul- The clinical symptoms of all 41 patients were analyzed and tiple deletions of mitochondrial DNA. The EcoRI classified as typical or atypical on the basis of the FSHD diag- restriction fragment of 23 kb was reduced to 20 kb by nostic criteria of the European Neuromuscular Centre.3 additional cleavage with BlnI. The BglII/BlnI dosage (REPRINTED) ARCH NEUROL / VOL 60, OCT 2003 WWW.ARCHNEUROL.COM 1422 ©2003 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/23/2021 test revealed 2 chromosome 4q35–type and 2 chromo- some 10q26-type fragments. Patient F1-2 The 15-year-old boy was delivered by cesarean section. Since infancy, he had noticed progressive bilateral pto- sis. Motor development was delayed (reduced crawling, walking at 18 months of age). At 7 years of age, the patient underwent surgical correction of prominent strabismus. The neurological examination revealed bilateral ptosis, divergent strabismus, asymmetrically restricted eye movements with up gaze worse in the Figure 2. Photograph of patient 2 from family 1 shows bilateral ptosis and right than the left eye and down gaze worse in the left ocular movement disorders. than in the right eye, slightly limited horizontal move- ment of both eyes, no facial weakness, minimal bilateral scapular winging, and lumbar hyperlordosis (Figure 1 atrophy of the dorsal trunk muscles and bilateral infra- and Figure 2). The serum CK level was within the ref- spinatus and supraspinatus muscles, slight muscular erence range. Electromyography findings showed atrophy of the right extremities, scapular winging that reduced amplitude and duration of MUAPs. Results of was worse on the right than on the left, bilateral paresis bicycle exercise testing were normal. A muscle biopsy of arm retroversion, foot drop, minimal proximal leg specimen demonstrated minimal myopathic changes and pelvic girdle weakness, striking Gothic palate, tho- without ragged red fibers. Molecular analysis revealed racic scoliosis, and lumbar hyperlordosis were seen. an EcoRI/BlnI restriction fragment, as could be seen in The serum CK level was elevated (360 U/L). Results of his father. a muscle biopsy demonstrated moderate myopathic changes. The molecular genetic
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