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PubMed1998

Merosin-deficient congenital muscular dystrophy and cortical dysplasia.

Congenital muscular dystrophy (CMD) encompasses a heterogenous group of muscle disorders with autosomal recessive inheritance, characterized by muscular weakness and hypotonia at birth or within the first few months of life and developmental delay. Merosin-deficient CMD is a clinically distinct form which may be associated with significant abnormalities of the brain detectable by neuroimaging. We report two siblings of consanguineous parents with merosin-deficient CMD in an Irish family who in addition to the characteristic white matter abnormalities on neuroimaging, had occipital dysplasia. Clinical, electrophysiological muscle biopsy findings and neuroimaging were very similar in both cases. Although merosin-deficient CMD with white matter abnormalities on neuroimaging is well documented in the literature, the association with occipital dysplasia has only rarely been reported. The appearance of an identical cortical defect in these siblings suggests an underlying genetic mechanism.

Biopsy↗

PubMed2006

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy. SETTING: Pediatric intensive care unit of tertiary care hospital. PATIENTS: We present two new cases of SMARD1 and report two new mutations in the gene IGHMBP2 which encodes immunoglobulin mu-binding protein 2 on chromosome 11q13. CONCLUSIONS: SMARD1 is a poor-prognosis disease that should be considered when acute respiratory insufficiency, of suspected neuromuscular or unclear cause, develops during the first 6months of life. Diaphragmatic paralysis, manifesting as dyspnea and paradoxical respiration, is the most prominent presenting sign and diaphragmatic motility should be investigated early by fluoroscopy or ultrasound. Electromyography and nerve conduction studies revealing peripheral motor and sensory neuropathy then suggest the diagnosis which should be confirmed by genetic analysis.

DNA-Binding Proteins↗

PubMed2006

Monensin toxicosis in water buffaloes (Bubalus bubalis).

The consumption of monensin-containing feed resulted in deaths of water buffaloes from a feedlot in which cattle and buffaloes were kept together. The monensin formulation was recommended only for use in cattle. Anorexia, muscular weakness, dyspnea, and recumbency were the major clinical findings. The most significant gross lesions were focal pale areas in semitendinosus and semimembranosus muscles, in which segmental necrosis of myofibers was seen microscopically. To compare susceptibilities of species to monensin, 3 bovine calves and 3 buffalo calves were orally dosed. At 5, 7.5, and 10 mg/kg of monensin, only the buffaloes became ill and died. Clinical signs initiated 18-20 h postdosing and were comparable to those from field cases. Gross changes consisted of ascites, hydrothorax, hydropericardium, hepatomegaly, and focal pale areas in the myocardium and to a lesser degree in semitendinosus and semimembranosus muscles. Histopathological changes also resembled those from the field cases, but were especially pronounced in the myocardial cells. The hypothesis that buffaloes could have a lower tolerance to monensin than cattle has been supported by experimental cases.

Animals↗

PubMed1998

[Identification of adhalin gene mutation in limb-girdle muscular dystrophy in Chinese].

OBJECTIVE: Limb-girdle muscular dystrophy (LGMD) is a group of severe genetic heterogeneity muscular diseases characterized by proximal muscular weakness of the pelvis and shoulder, affecting both male and female. This group of diseases involves four gene loci (13q12, 17q21,4q12,5q33). Up till now there is no research report about LGMD in Chinese. This study was intended to identify the pathogenic genes of LGMD in Chinese by mutation detecting. METHODS: The exons 2 and 3 of adhalin gene were analyzed in 13 Chinese LGMD patients and 20 controls by using PCR-SSCP and DNA sequencing. RESULTS: The R77C (Arg77Cys) missense mutation was found at the two alleles of a 9-year-old LGMD girl, which had not been found in the 40 wild type chromosomes. This is the first report on adhalin mutation that exists in LGMD in Chinese. CONCLUSION: Our results suggest that adhalin gene is one of the predisposing genes in LGMD in Chinese.

Child↗

PubMed1990

[A case of glycogen storage myopathy with acute heart failure].

A case of 25-year-old woman with glycogen storage myopathy is reported here. She was hospitalized for acute heart failure after alcohol drinking. The electrocardiogram on admission showed marked ST elevation. Laboratory data showed elevated levels of serum myogenic enzymes but no rise in cardiomyogenic enzyme: CK 3862 IU/l CK-MB 35 IU/l, LDH 427 IU/l, GOT 203 IU/l. After several days, she recovered from acute heart failure and could walk without supporting. ST elevation in ECG and elevated myogenic enzymes were also normalized. The occurrence of acute myocardial infarction was ruled out because a coronary angiogram and 99 Tcm scintigram were normal. Physical examination revealed proximal muscular weakness and mental retardation (WAIS, total 72). Venous lactate response was normal after semi-ischemic forearm exercise. PAS staining of muscle specimen showed an excess deposit of glycogen. Ragged-red fibers were not seen on Gomori-trichrome stain. By electron microscopy, a large amount of glycogen particles were demonstrated in the subsarcolemma, but there were no abnormal mitochondrial changes. Biochemical analysis showed accumulation of glycogen in muscles: 28.7 mg/g muscle (normal 11.4 +/- 4.2 mg/g muscle). The activities of enzyme in the pathway of glycogen and glycogenosis (alpha-glucosidase, amylo-1,6-glucosidase, phosphorylase a, phosphorylase kinase, phosphofructokinase, etc.) were within normal limits. The spectrum of glycogen iodine complex was normal. Our case was different from any type of muscle glycogen storage disease previously reported. The etiology of an excess of glycogen deposit in muscles is unknown.

Acute Disease↗

PubMed1998

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration.

Desminopathies form a heterogeneous group of myopathies characterised by pathological aggregations of desmin. We report a family, where mother and daughter presented with an atrioventricular block and a slowly progressive distal muscular weakness, with non-homogeneous focal atrophy on computed tomography scans. The mother developed a severe global heart insufficiency necessitating a heart transplantation at 56 years of age. Skeletal muscle biopsies were characterised by inclusion bodies strongly expressing desmin and alpha B-crystallin, with a predominantly subsarcolemmal localisation. Ultrastructurally most inclusions corresponded to non-membrane bound granulo-filamentous material with disruption of myofibrils. An immunoblot showed a hyperintense desmin band at 53 kDa and a second band at 49 kDa, the latter being absent in controls. The cardiac muscle of the explanted heart showed very similar inclusions. These cases illustrate that in this distinct subtype of desminopathies the cardiac muscle alterations are comparable with those observed in skeletal muscle, and suggest the possibility of a primary desmin pathology.

Adult↗

PubMed1992

[Hypothyroid myopathy. Physiopathological approach].

Patients with thyroid deficiency often complain of muscular weakness, exercise intolerance, cramps and excessive fatiguability. Hypothyroidism induces a metabolic myopathy, with a fall of the energetic production, and especially of the mitochondrial metabolism. This is due to a global inhibition of the main oxidative pathways (substrate incorporation, substrate oxidation) and of the respiratory chain. A diminished energetic consumption is partially related to a transition in the myosin isoforms, which express a slower ATPase, and to an impairment of the trans-sarcolemic transports. Exercise intolerance could be due to an abnormal recruitment of several metabolic pathways, such as glycolysis, related to the mitochondrial metabolism impairment, and including an abnormal accumulation of protons and monovalent phosphate ions, which are involved in the alteration of the actin-myosin interaction, and also by an abnormal Ca++ metabolism. The decreased number of NA+/K+ ATPase dependent pumps could imply an abnormal intracellular Na+ level and explain the frequent disorders of the membrane excitability.

Energy Metabolism↗

PubMed2000

Juvenile muscular atrophy of distal upper extremity (Hirayama disease): focal cervical ischemic poliomyelopathy.

Hirayama disease is characterized by an initially progressive muscular weakness and atrophy of the distal upper limb(s) in adolescence, occurring predominantly in males, followed by spontaneous arrest within several years. Although the disease could be separated from motor neuron disease, some authors considered the illness to be a variant of degenerative motor neuron disease until the first autopsy case was reported which showed focal ischemic changes in the anterior horn of the lower cervical cord. Since then, many in Japan have recognized the disease as cervical ischemic poliomyelopathy; however, several authors in foreign countries did not or do not appreciate the pathologic findings of the disease, and still consider the illness a degenerative motor neuron disease. The pathology of the disease prompted neuroradiologic investigations, which have revealed dynamic changes of the cervical dural sac and spinal cord induced by neck flexion. The cause of these dynamic changes is unknown. However, as the number of patients is exceedingly large in Japan, there may be an ethnic factor.

Adolescent↗

PubMed2000

[A case of sarcoid myopaty with external ocular muscle involvement--diagnosis and follow-up study with 99mTc pyrophosphate scintigraphy].

A 62-year-old woman was admitted to our hospital because of diplopia and muscular weakness. She had been diagnosed as having sarcoidosis histologically by skin biopsy 5 years before. Although neither CT nor MRI could detect the granulomas, 99mTc-pyrophosphate scintigraphy successfully detected the involvement of sarcoidosis not only in the skeletal muscles but also in the external ocular muscles. After treatment with prednisolone, the symptoms markedly subsided and increased uptake of radionucleotide disappeared. Although 67Ga scintigraphy is also known to be useful in investigating the sites affected by sarcoidosis throughout the body, it was not effective in detecting the involvement of external ocular muscle due to the physiological uptake of 67Ga to the lacrimal grands. While the granulomas are frequently observed histologically in skeletal muscles, usually they are not associated with muscle symptoms. In our study 99mTc-pyrophosphate scintigraphy has proven to be useful in investigating the nodular lesions in skeletal muscles of sarcoidosis than 67Ga scintigraphy.

Female↗

PubMed1995

X-linked recessive bulbospinal neuronopathy: clinical phenotypes and CAG repeat size in androgen receptor gene.

Clinical phenotypes and the CAG repeat size of the androgen receptor gene were assessed in 95 Japanese patients with X-linked recessive bulbospinal neuronopathy. There was an age- and duration-dependent deterioration of muscle strength, ADL scores, and plasma creatine kinase levels. However, there was no correlation between the presence of absence of gynecomastia or diabetes mellitus and the age at onset or duration of illness. Correlations were present between the CAG repeat size and the age at onset (P < 0.0001) as well as the presence or absence of gynecomastea (P < 0.05). Muscular weakness and ADL scores were also correlated with the CAG repeat size only when they were adjusted by the age at examination not by the duration of illness. These findings suggest that CAG repeat size is one of the determinant factors of disease progression. However, extensive variation in phenotypic severity in patients with the same size of CAG repeat was present even among the siblings, suggesting that other factors than CAG repeat size influence the phenotypic manifestation. The average gain of CAG repeat size expansion was a 1.4 repeat in paternal transmission which was more unstable than that in maternal transmission, but the magnitude of the expansion in paternal transmission was much smaller than is presently known for other diseases in which CAG repeat expansion is the responsible gene defect.

Adolescent↗

PubMed1985

Myopathies due to enzyme deficiencies.

After the discovery in 1959 of myophosphorylase deficiency, at least 15 myopathies due to deficiency of enzymes involved in energy substrate utilization have been described. In this review two main categories of enzymopathies, glycogenosis and mitochondrial disorders, are discussed. Clinically, the patients with these categories of enzyme defects present two major syndromes: acute recurrent muscle impairment, generally related to exercise, associated with cramps and/or myoglobinuria; progressive muscular weakness and wasting eventually associated with signs of affected organs other than skeletal muscle. Defects of glycogen breakdown and of the first step of glycolysis are more frequently associated with acute exercise intolerance, such as in myophosphorylase and phosphofructokinase deficiencies, but may be associated with progressive muscle weakness and wasting, such as in acid maltase and debrancher enzyme deficiency. Clinical heterogeneity is common in these disorders, but a biochemical explanation for their different clinical expression is still lacking. Defects of the second step of glycolysis, phosphoglycerate kinase, phosphoglycerate mutase and lactate dehydrogenase deficiencies, have been discovered recently and are associated with exercise intolerance. The reason for muscle weakness and atrophy in glycogenosis is still unclear, although it has been suggested that excessive protein catabolism occurs in myophosphorylase, debrancher and acid maltase deficiencies. Myopathies due to deficiencies of mitochondrial enzymes are less well defined, as a group, than the glycogenoses. They are currently considered to fall into three main groups: defects of substrate utilization, such as carnitine palmitoyltransferase deficiency; defects of respiratory chain complexes, such as cytochrome-c-oxidase deficiency and defects of phosphorylation-respiration coupling, such as Luft's disease. Again, severe and benign exercise intolerance or progressive life-threatening myopathic syndromes may be the clinical expression of these disorders. Detailed biochemical and morphological studies of muscle biopsies are needed in these patients to obtain a definite diagnosis and prognosis, and to decide on eventual treatment.

Adult↗

PubMed1976

Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence.

Two siblings and a third child exhibited a syndrome of progressive muscular weakness and wasting, closely resembling Werdnig-Hoffmann's disease. Autopsy of one of the siblings and the third child showed nearly total absence of myelin sheaths in the cranial and spinal nerve roots, relative preservation of axons, and normal neurons in the motor cranial nerve nuclei and anterior spinal gray matter. The mother of the siblings had bilateral pes cavus, and the father of the third child had a sensory-motor polyneuropathy dating to childhood, associated with pes cavus and scoliosis. The disorder in these children and in a few similar cases in the literature shares some features of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Dejerine-Sottas, but it is difficult to classify as either of these familial neuropathies as presently defined. Elevation of cerebrospinal fluid protein is a useful finding in distinguishing such children from patients with Werdnig-Hoffmann's disease.

Cerebrospinal Fluid Proteins↗

PubMed1989

Congenital nemaline myopathy. A clinical follow-up of twelve patients.

A clinical follow-up of 12 patients with congenital nemaline myopathy (CNM) is reported. The aims of the study were to characterise the disease further, to investigate the prognosis of CNM and the factors influencing it, to find guidelines for treatment and, through neuropsychological tests, electroencephalography and computed tomography of the head, to determine whether the central nervous system is affected. The following distribution of muscular weakness was constantly found: the weakest muscles were the facial muscles, the flexors of the neck and trunk, the dorsiflexors of the feet and the extensors of the toes. The distal limb muscles and the limb-girdle muscles were clearly weaker than the proximal limb muscles. No signs of involvement of the central nervous system were detected, and IQs showed a skew towards higher levels. The clinical state of health had deteriorated in 10 of the 12 patients and improved in 2. In addition to the grade of disease activity, prognosis seemed to be influenced mainly by the development of scoliosis and by the restricted respiratory capacity. Since no specific therapy is available for this disease, recommendations for the management of CNM include active rehabilitation and vigorous treatment of respiratory infections. Physiotherapy should focus especially on the maintenance of cardiorespiratory capacity and the prevention and treatment of scoliosis. Long periods of immobilisation should be avoided.

Adolescent↗

PubMed1996

[A patient with Sjögren syndrome with central pontine myelinolysis and hypokalemic myopathy].

We report a 42-year-old woman who presented with intermittent episodes of muscular weakness lasting approximate 7 to 10 days, about once a year, since 1985. During these episodes of weakness, hypokalemia and elevation of serum creatine kinase were noted. On admission, xerostomia, keratoconjunctivitis sicca (positive Schirmer test), abnormal sialographic findings (apple tree-like appearance), and positive serum autoantibodies against ss-A and nucleus were noted. These findings were compatible with Sjögren syndrome. She also had hyperchloremic metabolic acidosis with normal anion gap, hypokalemia and renal calcifications. Therefore, she had renal tubular acidosis (type 1) in addition to Sjögren syndrome. Brain magnetic resonance imaging (MRI) demonstrated a symmetrical circumscribed lesion in the ventral part of the central pons. We considered this lesion to be central pontine myelinolysis (CPM), because of its typical location and characteristic MRI appearance. This CPM was clinically silent. Pathogenesis and etiology of CPM are obscure, and CPM associated with hypokalemia without hyponatremia has rarely been reported in the literature. However, this is the first report of CPM associated with Sjögren syndrome and hypokalemic myopathy complicated with renal tubular acidosis.

Acidosis, Renal Tubular↗

PubMed1996

Congenital myopathy in Braunvieh x Brown Swiss calves.

A hitherto unknown skeletal muscle disorder is described in six Braunvieh x Brown Swiss calves. The animals showed rapidly progressing muscular weakness and became recumbent within 2 weeks of birth. Histological examination of skeletal muscle revealed a marked variation in muscle fibre size, internally placed nuclei, segmental loss of cross-striation with disorganization of myofibrils, and accumulation of nemaline rods. The most distinctive histological finding was intracytoplasmic, homogeneous, mostly crescent-shaped areas at the periphery of numerous muscle fibres. Electron microscopically, accumulations of tightly packed, parallel filamentous structures, about 20 nm in diameter, were detected in these areas. Enzyme histochemistry showed that all muscle fibre types were affected. Vimentin and dystrophin immunohistochemistry revealed normal antigen distribution within connective tissue components and at the periphery of each muscle fibre, respectively. The lesions could be readily distinguished from other neurological and neuromuscular disorders previously described in Braunvieh x Brown Swiss or American Brown Swiss Cattle. The disease appears to be a novel congenital myopathy in this breed, and a hereditary aetiology is suspected.

Animals↗

PubMed1991

[A case of adult-onset nemaline myopathy (adult-onset rod disease) with distal muscular hypertrophy].

We reported a 40-year-old male with adult-onset nemaline myopathy (adult-onset rod disease) showing muscular hypertrophy of distal limbs. At the age of 25, he noticed thinness of his thighs. Difficulty in climbing stairs slowly progressed from the age of 35. On admission neurological examination revealed muscular weakness and atrophy of proximal limbs and hypertrophy of distal flexors. Normal laboratory tests included serum creatine kinase, myoglobin, aldolase and pyruvate. Electromyography revealed severe neurogenic changes in the right biceps brachial muscle and the right quadriceps muscle, and moderate changes in the right gastrocnemius. Biopsy specimen of the deltoid muscle demonstrated type 1 fiber predominance and type 1 fiber atrophy, and there was small group atrophy and type grouping. Abundant nemaline rods were found mainly in type 1 fibers (81.5%). In order to evaluate hypertrophy of calf muscles, T1-weighted MRI of lower extremity was performed. While transaxial images through mid thigh showed moderate fatty replacement, increased volume and little fatty replacement were found in the mid calf. Therefore, hypertrophy of the calf muscle seemed to be compensative hypertrophy. But in this case neurogenic factors were indicated electromyographically and histologically. These findings may advocate the notion that neurogenic factors involved not only congenital but adult-onset rod disease.

Adult↗

PubMed2002

Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness and atrophy. At least three SMA-related genes have been identified: SMN1, NAIP and p44t. We analyzed these genes in 32 SMA patients and found that the SMN1 gene was deleted in 30 of 32 patients (94 %), irrespective of clinical type. The NAIP gene was deleted in 6 patients and its deletion rate was higher in type I patients than that in type U or V. Further, in type I patients lacking the NAIP gene, deterioration in their respiratory function is more rapid than in those type I patients retaining the NAIP gene. Since complete p44t deletion was observed in only 3 patients, the correlation between the p44t deletion and severity of SMA remained ambiguous. We concluded that the NAIP deletion was closely related to the clinical severity of SMA and was a predictive marker of SMA prognosis, while the SMN1 deletion did not correlate with clinical severity.

Adult↗

PubMed1996

Brain metabolism is abnormal in the mdx model of Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder primarily affecting young boys, often causing mental retardation in addition to the well-known progressive muscular weakness. Normal dystrophin expression is lacking in skeletal muscle and the CNS of both DMD children and the mdx mouse model. To date, 31P-magnetic resonance spectroscopy (MRS) has shown in vivo several abnormalities within skeletal muscle of mdx mice and DMD boys. In this study, we determined whether similar abnormalities occur in mdx brain in vivo by using 31P-MRS in addition to metabolite and enzyme analysis to study cerebral metabolism. An increased inorganic phosphate (P(i))/phosphocreatine (PCr) and pH was found in vivo for mdx brain compared with controls, and biochemical analysis showed a reduction in total creatine, an increased extracellular and decreased intracellular volume in mdx brain. No differences were found in any glycolytic or mitochondrial maximal enzyme activities. These changes are discussed with respect to the biochemical changes found in muscle from DMD patients and mdx mice. It is proposed that these biochemical changes may be a factor in the reduced cognitive capacity of mdx mice and some DMD children.

Animals↗