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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using high-field MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.
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PMID:MRI of the brain in muscle-eye-brain (MEB) disease. 799 Oct 95

We studied 50 patients with the merosin-positive form of congenital muscular dystrophy (MP-CMD) clinically and pathologically. The frequency of MP-CMD in our laboratory was approximately one-half that of the Fukuyama type and one-sixth that of Duchenne muscular dystrophy. The early signs of MP-CMD included decreased fetal movement during pregnancy (14%) and poor suck (42%), floppiness (30%), and respiratory difficulty (16%) in early infancy. Eighty-six percent of the patients had delayed motor development. Ninety-two percent of the patients followed beyond age 4 years had learned to walk. The disease was relatively slowly progressive, except in six patients who rapidly lost ambulation. Almost all patients had normal IQ, except four who were mildly to moderately retarded. Of the patients examined by cranial CT/MRI, 24% showed cerebral atrophy and 11% had areas of white matter lucency. Muscle biopsy results in those younger than 5 years showed mild dystrophic changes consisting of variation in fiber size and scattered necrotic and regenerating fibers. In older children, there were additional chronic dystrophic changes, including fiber splitting (32%), moth-eaten appearance (32%), marked fatty replacement (46%), and abnormal fiber type distribution (59%). The manifestations of MP-CMD were generally milder and more slowly progressive than those of the Fukuyama type and merosin-negative form of congenital muscular dystrophy.
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PMID:Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form. 861 89

A selective deficiency of a specific laminin isovariant, merosin made of M, B1 and B2 chains, was found in a series of 17 patients affected with congenital muscular dystrophy (CMD). The merosin deficiency was complete in 15 cases, and almost complete in two cases. An overexpression of the laminin A chain was seen in these biopsies, while B1 and B2 chains were normally expressed. Comparison of the clinical data with a series of 18 "merosin-non deficient" cases showed that the "merosin-deficient" cases were forming a more homogenous group than the "non-deficient" one. Hypotonia, contractures, motor development delay were generally more severe in the "merosin-deficient" series of cases. Moreover, white matter alterations were seen in most cases explored by MRI or scan imaging. A genetic linkage with a 6q2 locus, corresponding to the M chain gene localization, was found in a panel of informative families from French and Turkish origin with "merosin deficient" CMD. "Merosin non-deficient" families did not map on this locus. So, the "merosin-deficient" CMD can be considered as a peculiar entity within the group of Congenital Muscular Dystrophies.
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PMID:[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]. 872 91

Lack of dystrophin, a protein localized to the inner surface of the sarcolemma of the muscle fiber, is the cause of Duchenne type muscular dystrophy. Plasma membrane damage of the muscular fiber occurs, followed by Ca++ influx into the fibers. There is severe mitochondrial damage in dystrophic but still viable fibers. Five children aged 5-7 years were studied with MRI, TI-201, and Tc-99m sestamibi scintigraphy of the thighs. These three methods showed that the sartorius is the least damaged muscle in Duchenne type muscular dystrophy. MRI showed mild damage of adductors and quadriceps; TI-201 scintigraphy showed a marked reduction of radioactivity in the same muscles; Tc-99m sestamibi uptake occurred only in the sartorius muscle; the quadriceps was not imaged and adductors showed a faint image. A decrease of water in muscular fibers as well as fatty fibrous substitution, occurs after death of the fibers, whereas plasma membrane and mitochondrial damage reduced the uptake of tracers when the fiber is still viable. The interesting mismatch between sestamibi and TI-201 can be explained by considering that the cellular mechanism of uptake and retention of Tc-99m sestamibi involves both plasma membrane and mitochondria, whereas the uptake of TI-201 is only affected by plasma membrane damage.
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PMID:Muscular uptake of Tc-99m MIBI and TI-201 in Duchenne muscular dystrophy. 889 29

In the classical form of congenital muscular dystrophy (CMD), subclinical brain involvement is frequent. In order to establish the natural evolution of CNS alterations in this type of CMD, the cerebral functions of 12 cases were examined longitudinally for a mean period of 8 years. There were 7 boys and 5 girls, with a mean age of 5 years at first evaluation and 13 at the last one. Merosin expression in muscle fiber basement membrane, evaluated in 10 of them, was normal in 6 and deficient in 4. CNS conditions were followed up by repeated neuropsychiatric examinations, intelligence tests, EEG and brain CT scan and/or MRI. Eight of the 12 patients (including the 4 with merosin-deficiency) had normal intelligence, while 4 had mild to moderate mental retardation: in all the intellectual ability was unchanged during the follow-up study. CT scan detected minor brain alterations in 9 patients: 6 of these, the 4 with merosin deficiency and 2 others in whom merosin was not evaluated, presented leukoencephalopathy: on neuroimaging reappraisal it was unchanged in 3, improved in 2 and worse in 1 (a merosin-deficient case). Cerebellar alterations or mild ventricular dilatation were detected in 8 cases, including 3 merosin-non-deficient ones: these abnormalities were unchanged at the last study by CT and MRI, as were the normal neuroimaging findings observed in 3 other cases. Overall, during our study the brain alterations found in classical CMD showed a stationary or an improving course; progressive worsening was observed only in 1 of 4 merosin-deficient cases with leukoencephalopathy.
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PMID:Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle. 893 20

Nerve conduction velocities (NCVs), somatosensory (SEPs) and auditory evoked potentials (BAEPs) were recorded in 9 patients with facio-scapulo-humeral dystrophy (FSHD) and in 20 age-matched controls. In FSHD patients a significant increase of the nerve distal sensory latencies and of the absolute SEP latencies revealed a subclinical involvement of the afferent sensory pathways, as well as the abnormal slowing of the later components of the BAEPs, pointed to a central auditory dysfunction. Moreover all patients underwent brain MRI that showed the presence of white matter hyperintense lesions in 4 of them (44%). No correlations were found between individual or total number of SEP and BAEP abnormal electrophysiological parameters and severity of WMHL, age, age at onset, duration of the disease or muscular impairment. These findings make the interpretation and pathophysiology of the nervous damage in FSHD rather uncertain. More studies are required to better define the aspects of neurogenic involvement in this type of muscular dystrophy.
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PMID:Evoked potential study in facio-scapulo-humeral muscular dystrophy. 922 68

Primary deficiency of merosin is the cause of the classic form of congenital muscular dystrophy (CMD) accompanied by brain white matter abnormalities. We report a female infant with dystrophinopathy who was deficient in merosin in skeletal muscle. The patient had a phenotype of typical CMD and white matter abnormalities on brain MRI. Merosin was greatly reduced in the biopsied skeletal muscle. However, the expression of dystroglycan and syntrophin was also greatly reduced, and the immunoreactivity for the antibodies against the cysteine-rich/C-terminal domains of dystrophin was absent in the sarcolemma. Reverse transcriptase polymerase chain reaction analysis of the dystrophin gene revealed a complete lack of exons 71 through 74. In skeletal muscle, only the mutant gene was expressed. These results suggest that the patient is a symptomatic Duchenne muscular dystrophy carrier with skewed X-inactivation. This patient illustrates for the first time that a dystrophin abnormality can cause a secondary deficiency of merosin in dystrophinopathy. The reduction of merosin may account for the clinical phenotype of CMD and correlate with the white matter abnormalities in our patient.
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PMID:Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin. 927 Jun

We present a Japanese patient who has congenital muscular dystrophy, with partial merosin deficiency. The patient had characteristic findings of clinical features and brain MRI. Muscle biopsy showed advanced muscular dystrophy, with greatly reduced muscle fibers and massive infiltration of interstitial connective and fatty tissues. On immunostaining for cytoskeletal proteins, merosin was greatly reduced. The other cytoskeletal proteins, including dystrophin and 50 kDa alpha-sarcoglycan were normally expressed around all muscle fibers.
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PMID:Congenital muscular dystrophy with partial deficiency of merosin. 933 6

The classical form of congenital muscular dystrophy (CMD) is now classified into merosin-deficient and -positive forms. The merosin (laminin alpha 2) is one of three subunits of a muscle basement membrane protein, laminin. Patients with the merosin-deficient form have generalized muscle weakness and hypotonia from early infancy as seen in FCMD but with no significant central nervous system involvement. The serum creatine kinase (CK) is markedly elevated. Strikingly all patients examined by a CT/ MRI have diffuse white matter abnormalities mimicking leukodystrophy. The gene has been mapped to chromosome 6q2 in the coding region for merosin. Since the responsible gene and protein have not been identified in the merosin-positive form, this CMD is probably a group of heterogeneous diseases. The overall symptoms are mild, approximately 90% of patients learned to walk alone.
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PMID:[Non-Fukuyama type congenital muscular dystrophy--merosin deficient and positive forms]. 943 31

The evidence of severe structural brain abnormalities in association with severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the 'classical' form. However, it seems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain. The disease was not linked to the LAMA2 gene (6q22-23) or to Fukuyama congenital muscular dystrophy (FCMD) (9q31-33). To our knowledge, such an association may constitute a new entity within the broad clinical spectrum of CMD.
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PMID:Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings. 963 97


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