928-80 Can Electrocardiogram Help to Differentiate Emery-Dreifuss Muscular Dystrophy from Other Muscular Dystrophies?

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked muscular disease with a potentially lethal cardiac arrhythmia.The purpose of this study was to determine if electrocardiogram (ECG) was useful to differentiate EDMD from other muscular dystrophies, mainly facioscapulohumeral dystrophy and limb-girdle muscular dystrophy that usually have a benign course and a good prognosis.Our own experience consists of 3 patients of the same family with EDMD, 2 of them having a persistent atrial standstill during 22 years follow-up. Therefore we have reviewed the ECG patterns of 125 cases of EDMD reported in the literature and found persistent atrial standstill (PAS) in 37 patients (30%) and complete (31 patients, 25%) or incomplete (22 patients, 18%) A-V block.On the contrary no case of atrial standstill was recorded in the patients with the diagnoses of facioscapulohumeral dystrophy or other types of muscular dystrophies based on rigorous clinical criteria.On an other hand, in a survey of the etiologies of 109 cases of PAS, we have found 36 patients with EDMD (33%). Moreover in 27 patients with EDMD who had a 12 lead surface ECG, PAS was associated with a left anterior fascicular block (LAFB) in 14 cases (52%). Conversely in 51 patients without EDMD, PAS was associated with a LAFB in 5 cases only (10%, P<0.01).Conclusion1 The presence of persistent atrial standstill can probably help to differentiate Emery-Dreifuss muscular dystrophy from other muscular dystrophies more especially as a left anterior fascicular block is associated.2 Pacemaker insertion is recommended in that case to avoid the risk of sudden death

An Autopsy Case of Amyotrophic Lateral Sclerosis with Waldenström Macroglobulinemia and Anti-MAG Gammopathy

We report the case of a 71-year-old woman with typical signs of bulbar amyotrophic lateral sclerosis (ALS) associated with immunoglobulin M (IgM) monoclonal gammopathy and anti-MAG (myelin-associated glycoprotein) antibodies. This unusual association between ALS and anti-MAG antibodies has previously been reported in a single case. Our present case, at neuropathological examination, demonstrated no causative link between anti-MAG antibodies and ALS

Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay

We previously developed a highly specific method for detecting SNPs with a microarray-based system using stem-loop probes. In this paper we demonstrate that coupling a multiplexing procedure with our microarray method is possible for the simultaneous detection and genotyping of four point mutations, in three different genes, involved in Charcot-Marie-Tooth disease. DNA from healthy individuals and patients was amplified, labeled with Cy3 by multiplex PCR; and hybridized to microarrays. Spot signal intensities were 18 to 74 times greater for perfect matches than for mismatched target sequences differing by a single nucleotide (discrimination ratio) for “homozygous” DNA from healthy individuals. “Heterozygous” mutant DNA samples gave signal intensity ratios close to 1 at the positions of the mutations as expected. Genotyping by this method was therefore reliable. This system now combines the principle of highly specific genotyping based on stem-loop structure probes with the advantages of multiplex analysis

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[Limitations of skin biopsy for diagnosis of peripheral neuropathies]

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Recommendations on diagnostic strategies for chronic inflammatory demyelinating polyradiculoneuropathy.

International audienceBACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune mediated treatable peripheral neuropathy, the diagnosis of which is straightforward in more than half of cases. Numerous sets of electrophysiological criteria have been published. However, in some cases, electrophysiological data are not sufficient and patients that may benefit from treatment escape accurate diagnosis. OBJECTIVE: To describe a step by step diagnostic procedure for neurologists facing a peripheral neuropathy of undetermined cause, to help make an accurate diagnosis of CIDP. METHODS: A group of French experts was established, neurologists and neurophysiologists being recruited on the basis of personal experience with patients suffering from CIDP and also on publications in the field. A full literature review was conducted on the topic of diagnostic criteria and procedures for the diagnosis of CIDP, and meetings were scheduled to reach a consensus on the best diagnostic workup in different clinical situations. RESULTS: Six meetings were conducted and a consensus was reached, based on the available literature and experience in the management of such patients. Discussions resulted in defining five clinical situations in which a diagnosis of CIDP may be considered, and procedures were detailed in each case, including the location of nerve biopsy and use of non-conventional electrophysiological testing and imaging procedures. CONCLUSION: The guidelines in the diagnostic procedure reported here result from a consensus of French experts in the field of peripheral neuropathy and allow a diagnosis of CIDP to be made in the most frequently encountered situations. These recommendations may be of value for physicians as they rely on the rational use of available techniques in typical clinical situations

[Peripheral neuropathies: major diagnostic and therapeutic advances].

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