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1/27. Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy.

    Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant muscular disorder associated with a short (<35 kb) EcoRI/BlnI fragment resulting from deletion of an integral number of units of a 3.3-kb repeat located at 4q35. In this study, we determined fragment sizes separated by pulsed-field gel electrophoresis in a patient with an apparently sporadic case of FSHD and in his healthy family members. A 38-kb fragment was detected in the proband, in his older brother, and in their father. This finding prompted a clinical reevaluation of the father and brother. A subclinical phenotype restricted to abdominal muscle weakness was detected, and serum creatine kinase values were found to be elevated in both. The proband's brother also showed evidence of an independently occurring subtelomeric rearrangement of 4q35, which normally occurs in about 20% of the population. The identification of a "borderline" 38-kb EcoRI/BlnI fragment in an affected subject and his very mildly affected relatives extends the size range of disease alleles and expands existing data on the variable intrafamilial expressivity of FSHD. This study highlights the importance of a careful molecular and clinical analysis extended to family members of apparently sporadic cases with larger EcoRI/BlnI fragments for accurate diagnosis and appropriate genetic counseling in FSHD. ( info)

2/27. prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD).

    This study outlines the molecular dna findings derived from 12 separate prenatal diagnoses offered to families with a history of facioscapulohumeral muscular dystrophy. A high risk of the fetus being affected was identified in five pregnancies. Several practical problems are discussed, particularly those arising from the quality and quantity of dna made available for molecular diagnosis. Evidence of the 4q35 and 10q26 telomeric exchanges is present in 20 per cent of the general population and the specificity of the test is 95 per cent. The eventual isolation and functional characterization of the FSHD gene should allow us to unravel many of the complexities currently associated with the molecular diagnosis of this disorder. ( info)

3/27. Response to vecuronium in a patient with facioscapulohumeral muscular dystrophy.

    Increased sensitivity to vecuronium has been noted in patients with Duchenne muscular dystrophy. We report the response to vecuronium in a patient with facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant disorder with an incidence of 10-20 cases per million. In this patient, sensitivity to an initial dose of vecuronium (0.02 0.08 mg kg-1) was normal, but recovery was faster and the effect of incremental doses of vecuronium (0.02 mg kg-1) was less than expected. Onset time and 25% recovery of T1/T0 after the intubating dose of vecuronium were 240 s and 22 min, respectively. Recovery index (spontaneous recovery of T1/T0 from 25% to 75%) was 9 min. ( info)

4/27. An inherited 4q35-EcoRI-dna-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD).

    We present a case of an adult male patient showing clinical, neurophysiological and histological signs consistent with the phenotype of facioscapulohumeral muscular dystrophy. On molecular testing with a 4q35-dna-probe p13E-11 (D4F104S1), the patient, his clinically unaffected mother and two sisters shared a 4q35-EcoRI-dna-fragment of 35 kb on the transition between FSHD1A-associated and polymorphic fragments. Explanatory hypotheses, such as reduced penetrance in females or a phenotype unlinked to the 4q35-locus are considered. Alternatively, additional changes in the unidentified FSHD1A gene could have caused the phenotype. Thus, in such rare cases, the diagnostic evidence of 4q35-EcoRI-fragments is still limited. ( info)

5/27. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases.

    Consensual diagnostic criteria for facioscapulohumeral dystrophy (FSHD) include onset of the disease in facial or shoulder girdle muscles, facial weakness in more than 50% of affected family members, autosomal dominant inheritance in familial cases, and evidence of myopathic disease in at least one affected member without biopsy features specific to alternative diagnoses. Six patients did not meet most of these criteria but were diagnosed as FSHD by dna testing, which showed small EcoRI fragments on chromosome 4q. Their clinical signs and symptoms and results of auxiliary investigations are reported. The patients presented with foot extensor, thigh, or calf muscle weakness. None of them had apparent facial weakness, only one complained of weakness in the shoulders, none had a positive family history. Expert physical examination, however, showed a typical facial expression, an abnormal shoulder configuration on lifting the arms, or scapular winging. This raised the suspicion of FSHD, whereupon dna analysis was done. In conclusion, the clinical expression of FSHD is much broader than indicated by the nomenclature. The possibility to perform dna tests is likely to greatly expand the clinical range of FSHD. ( info)

6/27. Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion.

    Facioscapulohumeral dystrophy (FSHD) is a dominantly inherited myopathy usually associated with a deletion at locus 4q35. Typically, FSHD patients present with a recognizable constellation of signs including weakness of facial, shoulder and pelvic girdle, humeral, and anterior foreleg muscles; preservation of some muscles including the deltoids; and other characteristic features including prominent scapular winging, anterior axillary folds, and horizontally positioned clavicles. We performed clinical and FSHD genetic studies on four patients with atypical clinical features who were cared for at a regional neuromuscular center. The four patients, each harboring 4q35 deletions, presented with atypical phenotypes including facial-sparing scapular myopathy, limb-girdle muscular dystrophy, distal myopathy, and asymmetric brachial weakness. This report demonstrates the expanding clinical heterogeneity in patients harboring the 4q35 deletion. ( info)

7/27. Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

    We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35-year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complained of muscle weakness. The oldest sister showed clinical signs consistent with facioscapulohumeral muscular dystrophy, confirmed through molecular analysis. She presented a 30 kb EcoRI/BlnI fragment which was found in another six relatives, but surprisingly not in the affected proband or the other sister. In the second family, a 57-year-old male with a typical facioscapulohumeral muscular dystrophy phenotype has a 17 kb EcoRI/BlnI fragment, which was also present in other affected relatives. However in a 14-year-old severely affected male cousin, confined to a wheelchair since age 12, but without facial weakness, the small fragment was absent. These families illustrate the importance of testing all affected individuals in a family. ( info)

8/27. Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

    Facioscapulohumeral muscular dystrophy has a distinctive regional distribution but variable clinical expression and may be markedly asymmetrical. We report two patients presenting weakness and wasting confined to a single lower limb. creatine kinase was slightly increased, electromyogram and muscle biopsy were myopathic. Muscle computed tomography showed normal shoulder, mid-arm, pelvic and mid-thigh scans but involvement of calf muscles. In both cases, weakness of facial and periscapular muscles was found in other family members unaware of the disease. Molecular analysis showed 4q35 deletion in one family. These cases broaden the presentation of facioscapulohumeral muscular dystrophy to include isolated monomelic atrophy of lower limb with calf muscle involvement. ( info)

9/27. Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.

    There have been few reports on facioscapulohumeral dystrophy (FSHD) without 4q35 deletion. Most of them had either only mild FSHD phenotype or so called "borderline" EcoRI-fragments (35-38 kb). We analysed the clinical, electrophysiological, histological and genetic features of 46 consecutive patients from 31 families with a typical FSHD phenotype. Five patients from three families were identified with unequivocal clinical features of classical Landouzy-Dejerine FSHD, in which no typical FSHD 4q35 deletion could be seen, i. e. fragment sizes were well above 40 kb. Other possible diseases with similar phenotype were excluded. The FSHD gene itself has not been identified so far. The present study suggests that the FSHD phenotype might be caused by different molecular mechanisms. ( info)

10/27. Prosthetic treatment of a patient with facioscapulohumeral muscular dystrophy: a clinical report.

    Facioscapulohumeral muscular dystrophy syndrome (FSHD) is a rare hereditary myopathy characterized by muscle atrophy and weakness, particularly in the face and upper arms. patients may also exhibit dental malocclusions. This article presents the prosthodontic treatment for an 18-year old male with FSHD. ( info)
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