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PubMed1977

Neuromuscular syndromes associated with malignant disease.

Malignant disorders may produce neuromuscular syndromes in a variety of ways, for some of which it is still difficult to determine the exact pathophysiology. In the myopathic and neuropathic disorders, one possible explanation is that they are due to a virus such as is found in the rare "progressive multifocal leukoencephalopathy". This is seen in association with the malignant lymphomas and with other conditions such as sarcoidosis where immune responses may be altered by either the disease or the treatment. No viral material has been found in the nonmetastatic neurological disorders apart from progressive multifocal leukoencephalopathy. An alternative theory is that there may be an autoimmune process, the nervous system sharing some antigenic determinant with the neoplasm (Urich, 1967). The prognosis in the paraneoplastic neurological disorders is usually poor. As well as the direct threat to life posed by the malignant disease, when the neurological disorder is due to destruction of neurones (for instance cerebellar degeneration or sensory neuronopathy) recovery of function is impossible. Spontaneous remissions have been recorded in cases of proximal muscle weakness and sensorimotor neuropathy, but it is difficult to know whether the remissions have been truly spontaneous or related to treatment (excision of the neoplasm or administration of steroids). Further immunological and virological studies will probably reveal the answers to some of the outstanding problems. In the meantime the clinician must continue to investigate patients with muscular weakness for evidence of an occult neoplasm, and to repeat investigations if no other cause for the neurological disorder is found. Also, in patients with known malignant disease, apart from trying to differentiate forms of neuromyopathy from the effects of metastases the various metabolic disorders must be considered because the therapeutic possibilities are a little more promising in the paraneoplastic endocrine disorders. Ross (1975) wisely said that "cancer has replaced syphilis as the great imitator".

Cachexia↗

PubMed2004

Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion.

A boy with nonreducible bilateral congenital talipes equinovarus had delayed milestones with early-onset generalized hypotonia and muscular weakness. The condition remained stable until he was 8 years old. A slow worsening of motor abilities, with myopathic signs, was observed thereafter. A homozygous deletion of exons 7 and 8 of the survival of motor neuron 1, telomeric (SMN1) gene was found, without neuronal apoptosis inhibitory protein (NAIP) gene deletion, leading to the diagnosis of spinal muscular atrophy. Independent ambulation was lost when he was 13 years old. The occurrence of congenital clubfoot with early onset of neurologic signs, but with a very slowly progressive course, has not been reported in spinal muscular atrophy until now.

Adolescent↗

PubMed1985

Head and neck manifestations of dermatomyositis-polymyositis.

Dermatomyositis and polymyositis are rare disorders of connective tissue that manifest themselves primarily as muscular weakness. Fifty-five percent of 45 patients with this diagnosis at Thomas Jefferson University Hospital had symptoms referable to the head and neck. While dysphagia and the cutaneous manifestation predominate, such symptoms as facial swelling and oral mucosal disorders may require the treating physician to seek the advice of an otolaryngologist before the patient suffers any muscular changes. A thorough knowledge of this disease entity is essential to specialists in head and neck diseases.

Adult↗

PubMed2004

Efficacy of tacrolimus in treatment of polymyositis associated with myasthenia gravis.

We report a patient with polymyositis (PM) associated with myasthenia gravis (MG). Both disorders had been controlled for around 15 years by oral prednisolone and a cholinesterase inhibitor following surgical removal of invasive thymoma and radiotherapy, but muscular weakness due to myalgia and an increase in serum levels of myogenic enzymes, mainly ascribable to the recurrence of PM, reappeared immediately after cessation of these drugs, which was done because the patient had multiple bone fractures and severe osteoporosis due to the long-term corticosteroid therapy. Oral tacrolimus was therefore tried, and produced an improvement in muscular symptoms in association with normalization of myogenic enzymes. PM associated with MG as in this patient might be the best indication for tacrolimus, considering its efficacy in MG, but this drug should also be actively considered as a therapeutic option in refractory cases of PM alone, particularly when either corticosteroids or other immunosuppressive agents are not usable.

Adrenal Cortex Hormones↗

PubMed2001

Improving botulinum toxin therapy for palmar hyperhidrosis: wrist block and technical considerations.

Botulinum A exotoxin has become an excellent therapeutic option to treat focal hyperhidrosis, but when the problem affects the palmar region the technique has some drawbacks. Pain with injection is difficult to tolerate and the large dose needed to treat both hands are two concerns, as well as muscle weakness secondary to botulinum toxin diffusion and the possibility of antibody production. All these problems limit the number of patients treated. The author's suggestion is to treat only the dominant hand, after performing a wrist block. The use of a device adapted from a cartridge rubber may help to control the injection depth and the risk of muscular weakness.

Botulinum Toxins, Type A↗

PubMed1999

Merosin-positive congenital muscular dystrophy: a large inbred family.

Large families with congenital muscular dystrophy are rare. We report a clinical, histopathological, immunocytochemical, electrophysiological, radiological and genetic study of 10 cases affected by "pure" CMD belonging to two generations of a large inbred Palestinian family. The disease showed autosomal recessive inheritance. All patients had generalised muscular weakness and hypotonia at birth without arthrogryposis. They had a relatively benign clinical course with stabilisation of the clinical picture at different ages and at variable degrees of severity. The pattern of muscle weakness and wasting was more marked in the proximal upper limb-girdle and trunk muscles. Lower limb muscles were more mildly involved. Serum CK was normal or moderately increased. All patients had normal intelligence, normal computed tomography (CT) scans of the brain and normal somatosensory evoked potentials (SEP). Electromyography (EMG) and muscle biopsy showed morphological changes compatible with muscular dystrophy. Immunocytochemistry for dystrophin, laminin alpha 2 of merosin, and for alpha, beta, gamma sarcoglycans was normal. Linkage analysis excluded all the known loci for CMD, including laminin alpha 2 on chromosome 6q2, the Fukuyama congenital muscular dystrophy locus on 9q3, the integrin alpha 7 locus on chromosome 12q13 and the recently identified locus on 1p35-36. The family we present is clinically and genetically distinct from the already mapped forms of congenital muscular dystrophy. Genetic studies are in progress to localise the gene responsible for this condition.

Adolescent↗

PubMed1991

[A case of Kearns-Sayre-Shy syndrome with abnormal signal intensity on MRI in cerebral white matter and brainstem].

A 42-year-old woman was admitted for complaining of gait disturbance lasting for 2 years. She had a past history of hearing loss and bilateral ocular ptosis since her age of 21 years. Neurological examinations revealed severe external ophthalmoplegia, ptosis and muscular weakness of neck and extremities, but no dementia. Laboratory examinations showed high level of serum CK and slight elevations of CSF protein, lactate and pyruvate. The QT interval on ECG was prolonged. The EEG finding was slightly abnormal. The neurogenic pattern on EMG was noted. Muscle biopsy was performed at the quadriceps muscle. Its specimens demonstrated mixed changes of muscular atrophy and ragged red fibers. From these findings, Kearns-Sayre-Shy syndrome was diagnosed. It was noted in this case that brain MRI (T2-weighted image) revealed bilateral diffuse high signal intensity areas on cerebral white matter and brainstem. It seems that the lesions of central nervous system may progress subclinically for many years in cases of KSS, as our case shows.

Adult↗

PubMed1989

[A case of juvenile-type distal and segmental muscular atrophy of upper extremities (Hirayama disease) with the isolated cervical fusion at the C3-C4 levels].

The case, 29-year-old male, had suffered from muscular weakness and atrophy of the bilateral forearms and hands with tremor of the bilateral fingers for about 13 years. A neurological examination showed normal muscle-stretch reflexes and no sensory disturbances. A cervical spinogram revealed a fusion at the C3-C4 levels and mild spondylotic changes. We clinically diagnosed him as juvenile-type distal and segmental muscular atrophy of upper extremities (Hirayama disease) with the isolated congenital cervical fusion. Magnetic resonance imaging demonstrated an enlargement of the anterior epidural space from the C4-C5 levels to the Th 1-Th 2 levels. This abnormal epidural space showed relatively high signal intensity partially with low signal intensity on the T2 weighted spin-echo image and decreased in signal on the T1 weighted spin-echo image. And the dural sac was shifted backward and narrowed. And the soft discs was slightly protruded at the level of C4-5, C5-6 and C6-7. These findings suggest the over swelling and the delayed blood flow of the internal vertebral venous plexus. In this case, the degeneration of the cervical spine and soft disc derived from the congenital cervical fusion seems to have caused the internal vertebral venous plexus congestion and then have damaged the anterior horn cells.

Adult↗

PubMed1981

Muscle adenylate deaminase deficiency. Report of six new cases.

We describe six adult patients (five men and one woman) out of 364 whose muscle biopsy specimens disclosed muscle adenylate deaminase deficiency. Two men had an associated dermatomyositis and another man had an associated progressive systemic sclerosis. Although the patients were different clinically, all complained of muscular weakness or poor exercise tolerance. The occurrence of muscle adenylate deaminase deficiency in both sexes suggests a possible autosomal mode of inheritance.

AMP Deaminase↗

PubMed1990

[Peroneal muscle atrophy with talipes cavus. Pyramidal symptoms and sensory disorders in one family. On the problem of the nosological classification of hereditary spinal diseases and polyneuropathies].

We describe a family with peroneal muscular weakness and atrophy with associated pyramidal signs. Onset of obvious symptoms was usually after the age of 50 years, but history pointed to subtle symptoms at an earlier age. The disorder was of autosomal dominant inheritance. The muscle weakness involved only the legs. All affected persons remained independent as regards their ability to walk. Sensory disturbances were never significant for the affected individual. With regard to the neurographies, the disease could be classified as a form of hereditary motor and sensory neuropathy (HMSN). The clinical picture, however, allows the classification of the disease as a form of spinal muscular atrophy or spastic spinal paralysis. We discuss the diagnostic implications of such disorders, which involve both the peripheral and the central motor pathways.

Adult↗

PubMed2006

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a large number of muscle fibres. Recently, different missense mutations affecting the middle domain of the dynamin 2 (DNM2) have been shown to cause autosomal dominant CNM. In order to better define the phenotype of DNM2-related CNM, we report here on the clinical and muscle imaging findings of 10 patients harbouring DNM2 mutations. DNM2-CNM is characterized by slowly progressive muscular weakness usually beginning in adolescence or early adulthood. In addition to bilateral ptosis, our data show that distal muscle weakness often exceeds proximal involvement. Furthermore, electrophysiological investigations frequently demonstrated signs of mild axonal peripheral nerve involvement, and electromyographical examination may show neuropathic changes in addition to the predominant myopathic changes. These features overlap with findings seen in the phenotype of DNM2-related autosomal dominant Charcot-Marie-Tooth disease type 2B. In all 10 DNM2-CNM patients, muscle computer tomography assessment showed a consistent pattern of muscular involvement and a characteristic temporal course with early and predominant distal muscle involvement, and later affection of the posterior thigh compartment and gluteus minimus muscles. The recognition of this specific imaging pattern of muscle involvement--distinct to the reported patterns in other congenital myopathies--may enable a better selection for direct genetic testing.

Adolescent↗

PubMed1989

[Late post-poliomyelitis syndrome].

The late post-poliomyelitic syndrome is not rare (23 cases in the author's experience) despite the apparent eradication of the acute anterior poliomyelitis. It has been described as the late occurrence of recent motor disturbances in a patient with a previous history of acute poliomyelitis in childhood the sequelae of which have been stabilized for more than ten years. The functional sequela of purely mechanic origin as well as the musculoskeletal syndrome described by some authors do not enter in this framework. The occurrence of a muscular weakness and wasting resulting from a further damage of the peripheral motor neuron is only taken into consideration. The clinical expression is often focal, more rarely diffuse. The mechanism remains unknown.

Adolescent↗

PubMed1998

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers.

The pattern of X inactivation in lymphocyte DNA was investigated in 107 Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) carriers (102 asymptomatic and 5 manifesting carriers) and 117 normal female controls of different ages, with the aim: a) to analyze the pattern of X inactivation in blood DNA of a large number of DMD/BMD carriers as compared to normal female controls; b) to determine if there is a decrease in serum creatine kinase (CK) levels with age in obligate DMD/BMD carriers; c) to determine if there is a correlation between X-chromosome inactivation and serum CK among asymptomatic DMD/BMD carriers of different ages or with different clinical manifestations in symptomatic carriers. A high proportion of females showed extremely skewed X inactivation (>90% of one X preferentially inactivated), which was almost the same among carriers and normal controls (19 and 24%, respectively). The mean serum CK was significantly greater among young (<20 years old) than adult (>20 years old) DMD/BMD carriers and it decreased significantly until age 20 with an apparent stabilization afterwards. No statistically significant correlation was found between the proportion of active X(DMD) in blood and serum CK activity in DMD/BMD carriers although it was higher among those less than 20 years old. Our observations suggest that highly skewed X-chromosome pattern in blood (with preferential inactivation of the X(N) chromosome) is not enough to predict that a young DMD carrier will develop muscular weakness.

Adolescent↗

PubMed1978

[The vessels of the inner ear (author's transl)].

The inner ear as an example of a highly specialized sensory organ also possesses a highly specialized vascularisation. This represents an impressive example for a reasonable adaption of the terminal blood vessels to a specific function of the organ fulfilling more than only the nutrition. In this paper the microvascular bed of the cochlea is examined using both the injection method of the vessels and the biomicroscopic observation in vivo. The combination of these technics supported by histologic and stereoscan microscopic examinations has made it possible to give an account of the functional morphology of the inner ear vessels. As a detailed structural analysis of the vessels morphology with the help of dyes that fill the whole of the vessels space (i.e. Berlin blue) is not possible, perfusion experiments with silver nitrate were performed on the inner ear. After the perfusion the vessels are cleaned again, the silver however imbibes the intercellular reticular substances and after exposure produces a continous and sharp framework of the endothelium and--when present--muscular cells, thus showing the angioarchitectural contours. There is a very clear division of the cochlear vessels in a three dimensional space: The arterial and venous vessels are vividly separated from one another, forming two systems of microvascular units in the lateral wall and the spiral lamina. Each unit begins with special blood vessel convoluts in the modiolus, consisting of loops of arterioles. They are weakly muscularized whereas no muscle structures are seen elsewhere in the other parts of the inner ear vessels. There are no a.-v. anastomoses or sphinkters at all. The function of the vessel loops in the modiolus is to flatten the pulse wave as well as to regulate the blood flow in the microvascular bed by vasomotion. This was proved by statistical examinations of 1200 measurements of the widths of the vessels at several points of the cochlea in a blind study with and without vasoactive drugs. The terminology of the vessels is not standardized. The nomenclature in this paper has regard to the classification of the vessels, the course and the topographic localisation. Silver staining reveals changes in the form of the endothelium cells from the arterial towards the venous end. While the arteries show a long stretched spinle or lancet like form they change over blunt, oval, triangular or rhomboid forms into polygonal cells with spiked border lines at the venules. All experiments together give an account that the blood supply of the inner ear is in close correlation with the blood supply of the brain and too possesses autoregulative mechanisms, which must be localized in the convoluts at the beginning of every microvascular unit of the cochlear vessels.

Arterioles↗

PubMed1990

A case of bulbospinal muscular atrophy with chief complaint of sensory disorder in the lower extremities.

A 56-year-old man was admitted to our department with a chief complaint of lower extremity dysesthesia. He described a dull numbness below the ankle and a dull pain in the nates for the past two years. Although the numbness extended to the thigh, he did not notice any muscular weakness or atrophy. Neurological examination revealed weakness and atrophy in the face, tongue and the proximal portions of all four extremities. Deep tendon reflexes were decreased. A moderate loss of vibratory sensation was noted below the knees. Electromyography showed neurogenic changes. Muscle biopsy revealed both myogenic and neurogenic changes. Sural nerve biopsy revealed a mild reduction of myelinated fibers, particularly the large-diameter fibers. Based on these findings, a diagnosis of bulbospinal muscular atrophy (BSMA) was made. In recent years, there have been some case reports of BSMA with sensory disturbances, or merely with subclinical manifestations of a sensory disturbance. This case is included in the same category as those reports, but it is interesting to note that the sensory disturbance in the lower extremities occurred as the chief complaint of the disease.

Humans↗

PubMed1975

An unusual form of spinal muscular atrophy with mental retardation occurring in an inbred population.

Three sibs are described suffering from hereditary non-progressive spinal muscular atrophy with non-progressive mental retardation. One of them had in addition signs of pyramidal tract involvement. Muscular weakness was more pronounced proximally than distally and the neck muscles were severely involved. Th.ey all had small skulls and several associated congenital malformations were observed including syndactyly of the left hand in 1 patient. The patients belong to a small inbred community in the Netherlands. Erythropoietic protoporphyria was also present in the family but segregated independently. This combination of "congenital" mental retardation with "congenital" non-progressive spinal muscular atrophy is believed to represent a new syndrome, caused by a rare recessive gene.

Adult↗

PubMed1984

[Pathogenesis of experimental thyrotoxic myopathy].

The data obtained in mice with experimental thyrotoxic myopathy included a decrease in the median diameter of the muscle fibers by 17.1 per cent and various focal degenerative changes in less than 20 per cent of the muscle fibers; a statistically significant elevation in the activity of alpha-glycerophosphate dehydrogenase, as well as a reduction in phosphorylase activity and glycogen levels. There was also a significant diminution in the median diameter of the motor terminal plates, a decrease in cholinesterase activity and intensified collateral ramification of the distal axons. The major cause of the muscular weakness and structural changes in the skeletal muscles in thyrotoxic myopathy seems to lie in lowered cAMP concentrations and a weakened cAMP-dependent regulation of protein kinase.

Animals↗

PubMed1977

Amyotrophic lateral sclerosis in Finland. II: Clinical characteristics.

The clinical characteristics of ALS in Finland were investigated. The study was based on the hospital records of 255 patients. No correlation was found between the disease and other previous illnesses. Muscular weakness was the most frequent complaint of the patients as their first symptom (149/255, i.e. 58 per cent). The duration of the disease was shortest (1.9 years) in male cases with the first symptoms in the bulbar area, and it was longest (3.4 years) in females with a spinal onset of the symptoms. The duration of the disease was in inverse relation to the age when it was contracted. Progressive muscular atrophy with fasciculations was considered the most important clinical sign of ALS. It was most frequently observed in the upper extremities including shoulders. Sensory disturbances were absent, sphincter abnormalities were reported in only three cases, bed sores did not exist, and there were no reports of impotence in the male patients. Two families with two familial cases in each were found, altogether two men and two women. Their disease did not differ from that of the rest of the series. The ALS patients soon became too disabled to work; 56 per cent bacame permanently disabled in less than 1 year's time, and only 9 per cent retained their working capacity for more than 2 years. The average length of stay at hospital was 32 days for ALS and 37 days for MS patients, but the later group was hospitalized 2-3 times more frequently than the former. Gastrostomy or tracheostomy and artificial respiration did not lenghten the lives of the patients.

Adult↗