The pathogenesis and underlying lesion of acquired idiopathic generalized anhidrosis (AIGA) are apparently heterogeneous. We report a patient with AIGA in whom the eccrine glands were histologically normal. However, electron microscopic examination showed markedly low numbers of nerve terminals and unmyelinated axons associated with the eccrine glands. Our laboratory investigations suggest that degeneration of postganglionic sympathetic cholinergic nerve may be the underlying pathogenetic mechanism of anhidrosis in this patient.
This study consisted of 1) molecular deletion analyses in patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) using the entire cDNA for the DMD gene as hybridization probes, 2) RFLP analyses in a large number of Japanese normal women using 11 DMD-linked cloned DNAs as probes, and 3) segregation analyses with these RFLP data in 17 DMD families in which prenatal or carrier diagnosis was required. The deletion study showed that 18 (43%) of 42 male DMD patients had a deletion within the DMD gene, while no detectable deletion was found in 3 BMD patients. These deletions were preferentially observed at the 5' end of the DMD gene, while no deletion was found in the 3' portion of the gene. Of a total of 15 RFLPs detected with the 11 probes, one was a new RFLP (probe/enzyme: P20/MspI). In 6 RFLPs, the allele frequencies in the Japanese were statistically different from those in the Caucasian. Based on the RFLP data combined with the result of the deletion study, an estimated diagnostic rate for prenatal diagnosis and/or carrier detection in the Japanese DMD families was 63%. The real diagnostic rate obtained from the prenatal and carrier diagnoses, which were practically performed in 17 families, corresponded to the estimation. A protocol useful for the diagnosis in Japanese DMD families is presented.
The clinical course and prognosis of Duchenne muscular dystrophy (DMD)was compared in patients with deletions of the gene for dystrophin (CDMD)and those without such deletions. A total of 24 patients was followed for at least 2 yrs. At age 12 the rating of the activities of daily life (ADL) and disease stage were less favorable in those patients with deletions of the gene for CDMD. At age 14, no difference in ADL and disease stage was observed between the two groups. The percent vital capacity was lower in those patients with the CDMD deficit. Whenthe prognosis was evaluated by multivariate analysis of the data obtained at age 12, the percent of patients predicted as dying before the age of 20 was 40% for those without the CDMD deficit but 76%for those whowere CDMD defective. None of the CDMD defective patients lived longer than 20 yrs, whereas 5 of 14 patients without the CDNDdeficit survived longer than 20 yrs. Disorders such as cardiac and respiratory failure were also seen more frequently in the CDND defective patients. These results suggest that patients with Duchenne muscular dystrophy with defective CDMD have more severe disease than those without CDMD deficit.
SummaryPolymerase chain reaction (PCR)-based diagnosis was carried out in 62 patients (57 probands) with Duchenne or Becket muscular dystrophy (DMD or BMD) and 226 members in 57 families. The PCR studies were also performed for carrier detection in 57 mothers and 58 sisters, and prenatal diagnosis of 4 fetuses at risk of DMD. The PCR with 7 sets of primers, which amplify 7 different exon-sequences of the dystrophin gene, detected gene deletion of at least one exon in 49 ~ of the probands. The PCR with the other 4 primer sets, which amplify 3 intragenic loci, and subsequent endonuclease digestion detected in 84~ of the mothers a heterozygous pattern in at least one such locus/segment. Using the same primer sets, carrier detection was successful in 5 sisters of familial DMD cases, while recombination between the ERT87 and the 3' end intragenic loci was observed in 11 ~o of family members studied. Prenatal diagnosis was made in all the 4 fetuses; two males were affected, one male fetus non-affected, and the remaining one female fetus a carrier. Thus, the PCR study and the primers used in the present study are useful and convincing for rapid diagnosis of DMD and/or BMD.
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