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PubMed1991

Dystrophin immunohistochemistry in a symptomatic carrier of Becker muscular dystrophy.

Immunohistochemical localization of dystrophin was studied in a symptomatic carrier of Becker muscular dystrophy (BMD). Muscle biopsy specimens from a female carrier showed findings compatible with slowly progressive muscular dystrophy by ordinary histochemical examinations. Immunohistochemical study, using an antiserum raised against a synthetic peptide fragment of dystrophin, demonstrated a mixture of staining patterns, including continuous but faint positive fibres, partially disrupted fibres and negative fibres. These findings were identical to those of patients with BMD and appear to differ from previous findings in female carriers of Duchenne muscular dystrophy. This report is the first immunohistochemical study of a symptomatic female proven by molecular genetic analysis to be a carrier of BMD.

Adult↗
PubMed1995

A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C).

Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To clone the genes responsible for these diseases we constructed a yeast artificial chromosome (YAC) contig spanning an 8-cM region between the polymorphic markers D13S175 and D13S221. The contig comprises 24 sequence-tagged sites, among which 15 were newly obtained. This contig allowed us to order the polymorphic markers centromere-D13S175-D13S141-D13S143-D13S115-AF M128yc1-D13S292-D13S283-AFM323vh5- D13S221-telomere. Eight expressed sequence tags, previously assigned to 13q11-q12 (D13S182E, D13S183E, D13S502E, D13S504E, D13S505E, D13S837E, TUBA2, ATP1AL1), were localized on the YAC contig. YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an alpha-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region.

Animals↗
PubMed2002

Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy.

The myodystrophy (myd) mutation arose spontaneously and has an autosomal recessive mode of inheritance. Homozygous mutant mice display a severe, progressive muscular dystrophy. Using a positional cloning approach, we identified the causative mutation in myd as a deletion within the Large gene, which encodes a putative glycosyltransferase with two predicted catalytic domains. By immunoblotting, the alpha-subunit of dystroglycan, a key muscle membrane protein, is abnormal in myd mice. This aberrant protein might represent altered glycosylation of the protein and contribute to the muscular dystrophy phenotype. Our results are discussed in the light of recent reports describing mutations in other glycosyltransferase genes in several forms of human muscular dystrophy.

Amino Acid Sequence↗
PubMed1993

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.

The clinical progression of Duchenne muscular dystrophy (DMD) patients with deletions can be predicted in 93% of cases by whether the deletion maintains or disrupts the translational reading frame (frameshift hypothesis). We have identified and studied a number of patients who have deletions that do not conform to the translational frame hypothesis. The most common exception to the frameshift hypothesis is the deletion of exons 3 to 7 which disrupts the translational reading frame. We identified a Becker muscular dystrophy (BMD) patient, an intermediate, and a DMD patient with this deletion. In all three cases, dystrophin was detected and localized to the membrane. One DMD patient with an inframe deletion of exons 4-18 produced no dystrophin. One patient with a mild intermediate phenotype and a deletion of exon 45, which shifts the reading frame, produced no dystrophin. Two patients with large inframe deletions had discordant phenotypes (exons 3-41, DMD; exons 13-48, BMD), but both produced dystrophin that localized to the sarcolemma. The DMD patient, 113, indicates that dystrophin with an intact carboxy terminus can be produced in Duchenne patients at levels equivalent to some Beckers. The dystrophin analysis from these patients, together with patients reported in the literature, indicate that more than one domain can localize dystrophin to the sarcolemma. Lastly, the data shows that although most patients show correlation of clinical severity to molecular data, there are rare patients which do not conform.

Adolescent↗
PubMed1995

[Recent advances in Fukuyama type congenital muscular dystrophy].

There have been numerous reports as well as case presentations, in the field of clinical research since Fukuyama type congenital muscular dystrophy (FCMD) was first reported by Fukuyama et al. as a peculiar form of congenital progressive muscular dystrophy (CMD). Toda et al. localized the FCMD gene locus to chromosome 9q31-33 using genetic linkage analysis. Clinical application of molecular genetic studies is a new and exciting aspect of FCMD research. The author reviewed the literature and discusses herein: [1] the classification of CMD and the position of FCMD, [2] researches on the pathogenesis and pathophysiology of FCMD, [3] DNA diagnosis using polymorphism analysis (carrier diagnosis and prenatal diagnosis), [4] approaches to clinical heterogeneity in FCMD, [5] the difference between FCMD and Walker-Warburg syndrome. In addition, data accumulated by the authors are presented.

DNA↗
PubMed1981

[Na+ + K+] Mg2+-ATPase of muscle plasma membranes in Duchenne muscular dystrophy.

The activity of [Na+ + K+] Mg2+-ATPase of muscle surface membrane was investigated in 20 cases of the Duchenne type of progressive muscular dystrophy; it was found to be diminished and to have a changed reactivity to ouabain. There was nothing like it in cases of limb-girdle dystrophy and neurogenic muscular atrophies investigated for the purpose of comparisons, whereas in some cases of myotonic dystrophy and myotonia congenita the activity of the ATPase was indeed depressed, but the response to ouabain invariably remained normal.

Cardiac Glycosides↗
PubMed1990

[Electrocardiographic evaluation of myocardial co-involvement in Duchenne muscular dystrophy: prognostic implications in a case with multiple localizations].

After a review of the literature on myocardial involvement (MI) in Duchenne's progressive muscular dystrophy (DMD), the authors report a case with an extensive MI. This severe myocardial functional impairment is a poor index in the prognosis of DMD. The authors emphasize the use of echocardiography in the screening of MI in DMD.

Adolescent↗
PubMed1999

[Evaluation of cranial CT findings of patients with muscular dystrophy: with a reference to cerebral vascular disease and cardiac complications].

We evaluated cranial CT findings of 160 patients with various type of progressive muscular dystrophy (PMD). Significant brain atrophy was observed in 21 out of 63 cases of Duchenne muscular dystrophy (DMD), 7 out of 15 Becker muscular dystrophy (BMD), no case of 2 female dystrophinopathy (F-dyst), 11 out of 21 limb-girdle muscular dystrophy (LG), all cases of 10 Fukuyama type congenital muscular dystrophy (FCMD), 2 out of 5 fascioscapulohumeral muscular dystrophy (FSH), and 32 out of 44 myotonic dystrophy (MyD). Genetical degenerative process and vascular insufficiency seemed to cause brain atrophy in these disease. The intracranial calcification was observed in one DMD, one LG and seven MyD. One LG patient showed focal atrophy in left temporal lobe, and one MyD demonstrated right temporal meningioma. The trace of cerebral vascular accident was disclosed in eleven patients with PMD (1 DMD, 2 BMD, 1 F-dyst, 2 LG, 5 MyD). In these cases, 2 patients had dilated cardiomyopathy, 6 patients with decreased left ventricular ejection fraction, 3 with atrial fibrillation, 1 with cardiac arrest followed by pacemaker instillation, 1 with Adam-Stokes attack, and 3 with 1 degree AV-block. Diffuse low density in the white matter was seen in a patient with F-dyst, a FCMD patient, and 8 MyD patients. Cardiac emobolism, severe arrythmia, cardiogenic shock and hemodynamic disorder were seemed to cause cerebral vascular disease in PMD.

Adult↗
PubMed2003

Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene.

We identified a novel spontaneous mouse model of human congenital muscular dystrophy with laminin alpha2 chain deficiency, named dy(Pas)/dy(Pas). Homozygous animals rapidly developed a progressive muscular dystrophy leading to premature death. Immunohistological and biochemical analyses demonstrated the absence of laminin alpha2 chain expression in skeletal muscle. Analysis of the laminin alpha2 chain cDNA showed the insertion of the long terminal repeat of an intracisternal A-particle gene. In addition, a 6.1 kb insertion composed of retrotransposon elements was identified in the Lama2 sequence. The dy(Pas)/dy(Pas) mouse is thus the first spontaneous mutant with a complete laminin alpha2 chain deficiency in which the mutation has been identified.

Animals↗
PubMedDate not supplied

MR imaging of myopathy.

Magnetic resonance imaging was performed in 8 patients with muscle disease and 6 normal controls. High intensity areas of varying dimensions were found in thigh muscles of the patients with progressive muscular dystrophy (PMD) and congenital myopathy. Shortened T1 and prolonged T2 values with disease progression were characteristic. The T1 values were variable and prolonged, T2 values were more characteristic of progressive muscular degeneration. The T1 value may help to detect the early stage of PMD. Magnetic resonance imaging is useful in detecting the muscle lesions in PMD and essential for selection of a biopsy site.

Adolescent↗
PubMed1984

[Analysis of tracking behavior in patients with muscular dystrophy].

A compensatory tracking experiment was performed to investigate, on the basis of control theory, the dynamic characteristics of control movement in patients with progressive muscular dystrophy (limb-girdle type) and with myotonic dystrophy. Error scores and operator's transfer functions were estimated from the tracking data. The latter were approximated by a model which was composed of a gain constant, a delayed time constant and a dead time. The results showed that error scores for the muscular dystrophy patients and for the myotonic dystrophy patients were, in this order, greater than those for the normal subjects; the dynamic characteristics described by the transfer functions of the three groups were different from each other in terms of gain, phase lag and linearity of their operation. These results were discussed in terms of the stage of disability of motor function and the deterioration of intelligence with disease.

Adult↗
PubMed1992

[Muscular dystrophy as a risk factor in anesthesia].

Three cases of muscular dystrophy are reported on (8 years, 4 months, 10 months) in which serious conditions arose under anaesthetic (bradycardia, asystolia, hyperkalemia, rising CPK). In the first two cases there was no way of avoiding a fatal outcome, but in the third case the child survived with no permanent damage. The cause of incidents of this kind is discussed first as being hyperkalemia due to acute rhabdomyolysis, and secondly malign hyperthermia. There were no indications of malign hyperthermia in this case. It is hardly possible to distinguish this in an acute clinical ward, as the clinical symptoms are very similar. If it is known that muscular dystrophy is present, depolarising relaxants should be given sparingly. This also applies, as the first case shows, for muscular dystrophy of the Becker type, which can on the whole be regarded as benign in comparison with progressive muscular dystrophy of the Duchenne type. In this instance a forensic and anaesthetic expert's opinion even had to be produced at the request of the Public Prosecutor. The post mortem was carried out under the heading of a possible "mistaken medical treatment" but there was no evidence to justify such an assumption.

Anesthesia, General↗
PubMed1977

Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty.

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died at the age of 44 years, after 23 years of a "progressive muscular dystrophy." Acid maltase deficiency should be considered in the differential diagnosis of progressive respiratory insufficiency associated with weakness.

Adult↗
PubMedDate not supplied

[Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy].

INTRODUCTION: The recent discovery of the dystrophin-associated complex of glycoproteins led to the delineation of sarcoglycanopathies, a phenotypically similar to dystrophinopathies group of clinically heterogeneous and progressive muscular dystrophies. The objective of this paper is to report the clinical, biochemical, histological, immunohistochemical and molecular genetics characteristics observed in a case of adhalinopathy (alpha-sarcoglycanopathy or LGMD2D) presenting in early months of life and resembling congenital muscular dystrophy. CLINICAL CASE: An 12-year old school boy, the third son of a healthy, young, non consanguineous couple, presented at birth with bilateral cleft lip, cleft palate and mild hypotonia. At age 6 months it was believed he suffered from a benign form of congenital muscular dystrophy on the basis of clinical, biochemical, electrophysiological and histological findings. From 5 years onwards he had frequent falls and climbing stairs had become increasingly difficult. Also, a positive Gowers 'sign, mild calf hypertrophy, high serum creatine-phosphokinase level and myopathic electromyographic features were present; otherwise, cardiological evaluation and intelligence were normal. A repeated muscular biopsy at 10 years showed dystrophic features as well as selective deficiency of adhalin on immunostaining. DNA analysis demonstrated the patient being homozygote for a R77C mutation. Actually, a marked lumbar lordosis and waddling gait, an impossibility of climbing stairs and arising from the floor in addition to absent rotulian reflexes and mild Achilles retraction are present. CONCLUSIONS: LGMD2D may present in the first months of life mimicking congenital muscular dystrophy. It seems reasonable that biopsies of all new cases of muscular dystrophies be selectively immohistochemical analyzed, and when it is possible the diagnosis should be confirmed by DNA analysis.

Biomarkers↗
PubMed1981

Myocardial infarction in a child aged ten with Duchenne muscular dystrophy.

The authors describe the clinical picture, ECG, vectorcardiographic, and serum enzyme assays in one case of acute myocardial infarction occurring after a severe physical exertion in a child aged 10 with progressive muscular dystrophy of the Duchenne type. The picture differs considerably from the electrical aspects of "pseudonecrosis" that interstitial fibrosis of some portions of the left ventricle may produce in this myopathy.

Child↗
PubMedDate not supplied

Early onset muscular dystrophy with autosomal dominant heredity. Report of a family and CT findings of skeletal muscle.

The clinical features and muscle pathology in a female infant and her mother with early onset and slowly progressive muscular dystrophy (MD), possibly transmitted through autosomal dominant inheritance, are described. The mother exhibited multiple joint contractures at birth. The daughter had mild proximal muscle weakness at 2 3/12 years old. The muscle biopsy specimens from both patients showed myopathic changes with evidence of fiber necrosis and regeneration. Computed tomographic (CT) findings of their skeletal muscles suggested that proximal muscles were involved at an early stage, with later gradual involvement of generalized muscles, without a characteristic selectivity pattern in thigh muscles. This may possibly be a clinically benign and distinct variant of MD with a slowly degenerating pattern of skeletal muscles on CT.

Adult↗
PubMed2004

Novel mutations in three patients with LGMD2C with phenotypic differences.

Limb-girdle muscular dystrophy type 2C is an autosomal-recessive disorder caused by mutations in gamma-sarcoglycan encoding gene. This disease is characterized by childhood onset of progressive muscular dystrophy. Because of the clinical presentation, this disorder may be misdiagnosed as a dystrophinopathy. Two males (Patients A and B) from one Turkish family and one male (Patient C) from a Moroccan family had progressive walking disturbances for several years, exercise intolerance, and leg pains. Clinical examination revealed limb-girdle weakness and calf hypertrophy. Serum creatine kinase levels ranged from 1100 to 19000 U/L. The initial findings and course of the disease were less severe in Patient B compared with his brother (Patient A) at the same age. By means of immunohistochemistry on muscle biopsy all patients manifested reduced expression of alpha-, beta-, gamma-, and delta-sarcoglycans. DNA sequence analysis revealed a homozygous splice site mutation in exon 5 (IVS5+2T>C) in the Turkish family. In the patient from the Moroccan family a homozygous nonsense mutation in exon 2 (93G>A;Trp31X) was present. In conclusion, this report describes the clinical, histologic, and immunohistochemical characteristics of three children with limb-girdle muscular dystrophy type 2C. Two novel mutations in the gamma-sarcoglycan gene were present. We found phenotypic differences in two brothers.

Biopsy↗