Acta Myologica

Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life. All the clinical variants share the same molecular defect, the difference being driven mainly by the copy number of SMN2 gene, a centromeric gene nearly identical to SMN1 with a unique C to T transition in Exon 7 that results in exclusion of Exon 7 during post-transcriptional processing. In all the types of SMA the clinical picture is characterized by hypotonia, weakness and areflexia. Clinical severity can vary a lot between the four main recognized types of SMA. As for the most of patients affected by different neuromuscular disorders, also in SMA fatigability is a major complaint as it is frequently reported in common daily activities and negatively impacts on the overall quality of life. The increasing awareness of fatigability as an important dimension of impairment in Neuromuscular Disorders and particularly in SMA, is making it both a relevant subject of study and identifies it as a fundamental therapeutic target. In this review, we aimed to overview the current literature articles concerning this problem, in order to highlight what is known and what deserves further research.

Oscar Crisafulli

Angela Berardinelli

Giuseppe D'Antona

Acta myologica

Fatigue in Spinal Muscular Atrophy: a fundamental open issue.

脊髓性肌萎缩症中的疲劳：一个基本的未解问题。

Accurate genetic counseling and the advent of possible treatment of some muscular dystrophies urgently need the exact diagnosis. Our usual approach to DMD/BMD diagnosis is based primarily on clinical, laboratory, genealogical, and multiplex PCR. Using this strategy 60% of the dystrophin gene defects should be detected. For remaining 40% of patients the diagnosis has to be assesed by dystrophin Western blot. In some patients this approach is not possible either the advanced dystrophic process does not permit protein analysis or because of patients refusal. If DNA is available, the exhaustive genomic Southern blotting followed by application of SSCP analysis or systematic sequencing of the 79 exons and their flanking sequences can give the answer. In rare informative families linkage analysis can be useful.This strategy is illustrated by analysis of DMD/BMD patients seen at our department during last four years.

Nina Canki-Klain

Davor Miličić

Silva Hećimović

Goranka Tanačković

Dominique Récan

Stephane Llense

Jean-Claude Barbot

F. Leturcq

Jean-Claude Kaplan

Marija Šoštarko

Zoran Mitrović

Leo Pažanin

Josip Turčić

Jadranka Sertić

Nina Barišić

Vida Čulić

Vladimir Bauer

Marija Žagar

Niko Zurak

DNA analysis : contribution to diagnosis in advanced stages of DMD/BMD

DNA分析：对杜氏/贝氏肌营养不良症晚期诊断的贡献

Aim.To screen general population for 550delA mutation because our previous study showed that calpainopathy (LGMD2A) is the prevalent autosomal recessive muscular dystrophy in Croatia with high frequency of 550delA mutation (63, 8% ; 23/36 of CAPN3 chromosomes). Methods. We used allele specific PCR, which proved to be less time consuming then previously practiced PCR and restriction with BsaAI. Patients. 532 random blood samples (presenting 0, 012% of 4, 3 million people of Croatia) were collected from healthy blood donors from three different regions of Croatia. Results. Four healthy 550delA heterozygotes were found making whole frequency of 1 in 133 (4/532). When analysed by region, results were quite unequal.In 200 donors from capital city any carrier was found, as well as in small sample of 68 donors from north-west wide plain region. All 4 carriers were from sampling of 264 blood donors from islands and mountain region close to Adriatic sea. Conclusion. These data confirm that our population in general is rather closed with pronounced founder effect in some parts of the country that is very important to know for accurate genetic counseling and testing patients

ISSN	1128-2460, 2532-1900
h-index	39

Publication Information	Publisher: Pacini Editore Srl，Publishing cycle: ，Journal Type: journal，Open Access Journals: No
Basic data	Year of publication: 1997，Proportion of original research papers: 0.00%，Self Citation Rate:N.A.， Gold OA Rate: 0.00%

Acta Myologica

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Fatigue in Spinal Muscular Atrophy: a fundamental open issue.

DNA analysis : contribution to diagnosis in advanced stages of DMD/BMD

Carrier frequency of 550delA mutation of CAPN3 gene in Croatia

DNA analysis : contribution to diagnosis in advanced stages of DMD/BMD

Carrier frequency of 550delA mutation of CAPN3 gene in Croatia

Fatigue in Spinal Muscular Atrophy: a fundamental open issue.

Carrier frequency of 550delA mutation of CAPN3 gene in Croatia

Carrier frequency of 550delA mutation of CAPN3 gene in Croatia

Carrier frequency of 550delA mutation of CAPN3 gene in Croatia

Carrier frequency of 550delA mutation of CAPN3 gene in Croatia