Case reports of progressive infantile muscular atrophy (Werdnig-Hoffmann) in fraternal twins.
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Disease↗
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Results for “PROGRESSIVE MUSCULAR ATROPHY”
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Immunocytochemical and ultrastructural study of the motor cortex in patients with lower motor neuron disease.
This report conveys the results of an immunocytochemical and ultrastructural study of the motor cortices of six patients with clinically and pathologically-diagnosed lower motor neuron disease (LMND) such as progressive spinal muscular atrophy, progressive bulbar palsy, or both. These patients showed neither upper motor neuron signs nor upper motor neuron system involvement including the corticospinal tract in postmortem tissues after conventional stainings. Specimens from 12 age-matched normal individuals served as controls. All patients showed loss of brainstem motor neurons and anterior horn cells. Betz cells in LMND patients were significantly reduced in number as compared to controls (P<0.01). However, there was no significant difference in the density of phosphorylated neurofilament (PNF) (200 kDa)-positive Betz cells between LMND patients and controls. The pyramidal cells of layer III were immunostained for PNF in four of six LMND patients, but there was no significant difference in the density of PNF-positive pyramidal cells between LMND patients and controls. The number of astrocytes immunostained for glial fibrillary acidic protein increased in layer III and at the transition between white matter and motor cortex in three out of six patients and one of 12 controls. Ultrastructural examination revealed that the Betz cells of five of six LMND patients had Bunina bodies, Lewy body-like inclusions or skein-like inclusions, all of which are characteristic of amyotrophic lateral sclerosis (ALS). These findings suggest that most patients with clinically and pathologically-diagnosed LMND should be classified into the category of ALS.
Adult↗
[Molecular genetic analysis--a new stage in the study of hereditary diseases of the central nervous system].
Molecular genetics is currently the most powerful tool for studying hereditary diseases of the central nervous system: Huntington's disease, dopa-nonresponsive dystonia, Friedreich's disease, etc. The review presents the most important results obtained in this field by the Department of Neurogenetics, Institute of Neurology, in collaboration with several Russian and foreign research institutes. The authors were the first to perform a molecular analysis of mutations and haplotypes in Huntington's disease, dopa-nonresponsive dystonia, Wilson's disease and studied the frequencies of various mutations and main genotype-phenotype correlations in the Russian population. The first direct diagnosis of Huntington's disease in Russia, as well as indirect diagnosis of Friedreich's disease, dopa-nonresponsive dystonia and Wilson's disease have been made. The authors began to investigate trinucleotide repeat expansion in dominant spinocerebellar ataxias and related disorders. The Department of Neurogenetics collected a valuable bank of DNA samples, which is sufficient to perform linkage analysis in essential tremor, novel forms of congenital cerebellar atrophy and progressive muscular atrophy.
Central Nervous System Diseases↗
[Progressive spinal muscular atrophy and parathyroid adenoma. Clinico-pathologic study of a case].
A 82 year-old man died 6 years after the onset of a progressive spinal muscular atrophy. Post-mortem examination disclosed a parathyroid adenoma. Weakness and wasting were prominent in the proximal lower limbs. There were no fasciculations. Involvement of the medulla was mild and late. These clinical features were also present in 16 reported cases, which were improved by treatment of primary or secondary hyperparathyroidism. Our patient differs by the involvement of the hand muscles and the loss of tendon reflexes. Neuropathological study, as in one other reported case, showed a loss of anterior horn cells. Such cases underline that calcium metabolism must be studied in syndromes of spinal muscular atrophy.
Adenoma↗
Adult-onset rapidly progressive spinal muscular atrophy of shoulder girdle with gammopathy.
The paper reports on clinical and pathologic findings in a 51-year-old man who presented with rapidly progressive spinal muscular atrophy associated with relatively early respiratory paralysis. Clinical diagnosis was based on typical EMG, and bioptic and enzyme findings. In the CSF protein and cell content were normal, the IgG concentration was high, the IgG/Alb quotient increased, intrathecal synthesis of IgG was evident, and oligoclonal gammopathy was found. All of these findings generally appear in neuroallergic diseases. Total loss of anterior-horn cells, demyelination of fasciculus cuneatus and spinothalamic pathways, as well as round Lafora-body like inclusions, preponderantly in the white matter, were observed with light microscopy. Electron microscopic examination revealed reoviruses in the glia cells of the damaged motor zone.
Anterior Horn Cells↗
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.
Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterised by loss of motor function and muscle atrophy due to anterior horn cell degeneration. The most common variant is chromosome 5-linked proximal SMA, ranging in severity from congenital onset and infantile death to onset in adult life. Genetically separate variants with different distribution of weakness and/or additional features such as central nervous system involvement have been described. A rare variant with associated myoclonic epilepsy and lower motor neuron disease had been previously described in three families before the SMN gene, responsible for the common form of SMA, was isolated. We report four patients from two additional families affected by a syndrome characterised by severe and progressive myoclonic epilepsy and proximal weakness, tremor and lower motor neuron disease proven by electrophysiologic and muscle biopsy findings. Extensive metabolic investigations were normal and genetic analysis excluded the SMN gene. This study confirms that the association of myoclonic epilepsy and motor neuron disease represents a separate clinical and genetic entity from chromosome 5-linked SMA, the primary defect of which remains unknown.
Biopsy↗
Dynamic aspects of peripheral nerve changes in progressive neural muscular atrophy: light- and electronmicroscopic studies of serial nerve biopsies.
Serial nerve biopsies were performed at an early, and at an advanced stage of the disease in 2 patients with progressive neural muscular atrophy. The early biopsy showed a complete loss of the large diameter and thickly myelinated fibres, as well as an expansion of the endoneurial interstitium in both cases. Myelinated and unmyelinated fibres exhibited axonal degeneration in all biopsies occasionally. "Onion bulb" formation, a typical feature of peripheral neuropathy in neural muscular atrophy, was found to be prominent only in the latter biopsies. As regards the formal pathogenesis of hypertrophic neuropathy in neural muscular atrophy, axonal dystrophy and interstitial changes of the endoneurium were regarded as primary phenomena, demyelination and "onion bulb" formation as secondary. A possible causal relation between axonal dystrophy and interstitial changes, observed in these cases, is discussed in the light of the present literature.
Adolescent↗
A polymorphism in the poliovirus receptor gene differs in motor neuron disease.
Poliovirus has been implicated in the etiology of sporadic motor neuron disease. DNA polymorphisms in the poliovirus receptor gene (PVR) are associated with persistent poliovirus infection in cell culture. PVR DNA polymorphisms were therefore studied in 110 cases of amyotrophic lateral sclerosis, 30 cases of progressive muscular atrophy (a disorder of lower motor neurons) and 280 normal controls. In exon 2 of PVR the heterozygous Ala67Thr change was detected in 20.0% of progressive muscular atrophy, 11.8% of amyotrophic lateral sclerosis and 6.8% of control subjects. The frequency of the polymorphism was significantly higher in patients with progressive muscular atrophy than in controls. Differences in the poliovirus receptor gene may result in slowly progressive viral cytopathic effects that lead to lower motor neuron forms of motor neuron disease.
Adult↗
Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome.
INTRODUCTION: Spinal muscular atrophies (SMAs) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, in some cases, patients may show associated, atypical clinical features ("SMA plus"). In particular, the association of SMA and progressive myoclonic epilepsy (PME) has been rarely described. CASE REPORT: We present the clinical and electrophysiological data of a boy with childhood-onset SMA associated with PME and reviewed cases of the literature. CONCLUSION: The association of SMA with PME may constitute a separate and, probably, genetically independent syndrome with unique clinical and electroencephalographic findings or, at least, a variant of a neurodegenerative or metabolic disease, due to yet unknown causes.
Anticonvulsants↗
[Pathological anatomy of the heart in myopathies and infantile muscular atrophies].
In progressive muscular dystrophy, the heart is always affected and presents characteristic histological lesions: irregular, diffuse and intense rearrangements predominantly in the left ventricle, the septum and conductive tissue, consisting of wide, poorly vascularized fibrous bands, that are destructive but without an inflammatory aspect. The remaining myocardium is dystrophic with degeneration of the fibers (hyalin, atrophic or hypertrophic) with irregular nuclei. Plaques of adipose tissue are found under the epicardium within the heart wall. Sometimes, a fibrous thickening of the intracoronary arteries is observed without modification of the intima, but vascular lesions are not systematically seen. In congenital muscular dystrophy, cardiomyopathy certainly exists, but there is no histological description. Half of the patients suffering from myopathy with intracytoplasmic inclusions also have dystrophic and fibrotic cardiac involvement. Congenital myopathies may have their own specific cardiomyopathy, as in central core myopathy, nemaline (rod) myopathy and especially myotubular myopathy, where involvement is common. Werdnig-Hoffmann disease types I and II do not affect the heart. In contrast, several cases of fibrotic lesions have been described in KugelbergWelander disease.
Adolescent↗
Progressive peroneal muscular atrophy (Charcot-Marie-Tooth disease) associated with beta-thalassemia trait and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. A clinical and nerve biopsy case.
The case of a 22 year old woman presenting progressive peroneal muscular atrophy (PMA) is described. Electrophysiological and pathological studies demonstrated features of hereditary motor and sensory neuropathy -HMSN- type I. Laboratory findings showed two erythrocytic defects: beta-thalassemia trait and a glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Unlike the past, these inherited disorders are associated with PMA.
Adult↗
Progressive spinal muscular atrophy in a case of hypokalamic periodic paralysis.
A 47-year-old man with well-documented hypokalemic periodic paralysis demons-rated permanent myopathy as shown by biopsy. In addition there was clinical and biopsy evidence of progressive spinal muscular atrophy. The feature of the combination of these diseases is reported in a case and discussed.
Humans↗
[Chronic respiratory failure--survival for nine years with home mechanical ventilation].
We report the case of a woman, now 58 years old, with chronic respiratory failure due to spinal progressive muscular atrophy. She first noticed gradual progressive muscular weakness in her extremities in 1973. She started to complain of dyspnea on exertion in 1978. Chronic respiratory failure due to spinal progressive muscle atrophy was diagnosed in 1983. Home oxygen therapy was begun, but CO2 narcosis and exacerbation of chronic respiratory failure occurred at the end of that year. A tracheotomy was done and mechanical ventilation was begun. As her general condition improved and she could breathe without the ventilator for a few hours each day, home mechanical ventilation was begun. Seven years later, her general condition is still good and she can live without any life-threatening distress. There are few reports of patients in Japan who have survived for long periods of time with home mechanical ventilation. We believe that improvement in her respiratory care and in her social situation contributed to her long standing clinical course.
Chronic Disease↗
Single fibre electromyography in various processes affecting the anterior horn cell.
SFEMG recordings were carried out in patients with amyotrophic lateral sclerosis, progressive muscular atrophy, familial spinal muscular atrophy and syringomyelia. The fibre density was increased in all conditions, especially in progressive muscular atrophy indicating marked collateral sprouting. The duration of the action potential was increased indicating a mixture of hypertrophic and atrophic fibres and slowly conducting newly formed nerve sprouts. The action potentials were unstable with varying degree of impulse blocking especially in the more progressive cases (ALS), representing recent re-innervation. The SFEMG method is used to characterize the functional status of the motor unit and helps in diagnosis and in predicting prognosis. In addition, SFEMG recordings reveal abnormalities in clinically and electromyographically normal muscles.
Action Potentials↗
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
A female child of healthy parents developed rotary nystagmus at the age of 15 months. Ophthalmoscopy disclosed incomplete optic atrophy. Blood tests, EEG and CT scans were normal. At 20 months progressive muscular weakness and wasting with limb-girdle distribution commenced, followed later by disturbance of gait. From muscle and nerve biopsy the diagnosis of a peripheral neuropathy with neurogenic muscular atrophy was made. No mental change occurred. At 23 months she sustained cardiac arrest and was resuscitated; thereafter, she remained in a vegetative state and expired 9 months later. Her brain was markedly atrophic and firm. Diffuse old ischemic necroses and neuronal loss with gliosis were found in the cortex, the neostriatum, the thalamus, parts of the lower brainstem, and the cerebellum. Her optic nerves and tracts showed complete atrophy. The spinal cord exhibited degeneration and loss of motor neurons with cervical accentuation. The intermediolateral nuclei, the dorsal nuclei and the spinal ganglia were also involved. There was demyelination of the posterior funiculi, the pyramidal tracts, and the sciatic, peroneal, sural, and superior frontal nerve. The voluntary muscles exhibited large group atrophy with liposclerotic change and limb-girdle predominance. The neck, tongue and ocular muscles were also involved, as were, to a less extent, the lower limbs. Although the loss of motor neurons in the spinal cord and at the bulbar level with the typical pattern of neurogenic muscular atrophy, as well as its distribution, resemble the facioscapulo-humoral type of heredity motor neuropathy (HMN), early onset, rapid course, sensory and autonomic involvement, and atrophy of the optic nerve do not fit this or any one type of HMN.
Atrophy↗
Rapidly progressive spinal muscular atrophy in an ambulatory 2-year-old male.
A 2-year 9-month-old male was referred for gait disturbances. Main complaints were abnormal gait with frequent falls observed as soon as he began to walk unaided, at 18 months of age. The first neurologic examination revealed symmetric and proximal weakness in the lower limbs with difficulty running and walking upstairs. Deep tendon reflexes were decreased, and generalized hypotonia was observed. Three months later, at 3 years of age, he had lost independent gait, and 1 month later he could not stand unaided. DNA analysis revealed homozygous deletion in exons 7 and 8 of SMN1 gene, confirming the diagnosis of spinal muscular atrophy. According to the current classification, this patient would be classified as spinal muscular atrophy type III. The distinctive feature of this case was the short time elapsed (18 months) between onset of spinal muscular atrophy and the age at which he lost ambulation. This patient reinforces the notion that late onset of symptoms in spinal muscular atrophy and acquisition of independent gait do not exclude a rapidly progressive motor deterioration, which is important when talking with families about outcome. In those rapidly progressive cases, when promptly available, testing for SMN1 gene will prevent unnecessary, invasive, or uncomfortable procedures such as lumbar puncture, electromyography, or spinal cord magnetic resonance imaging.
Child, Preschool↗
[The genesis of amyotropic lateral sclerosis and of progressive spinal muscular atrophy].
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Amyotrophic Lateral Sclerosis↗
Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms.
Two siblings presented with identical features of progressive peripheral paralysis of the lower motor neuron type, pyramidal signs, cranial nerve palsy which included external ocular palsy and deafness, and internal ocular palsy; both died before 1 year of age. Pathologic examination of the central nervous system in both patients revealed degeneration and loss of spinal and cranial nerve motor nuclei, including the oculomotor nucleus. In addition, there was degeneration of the Edinger-Westphal nuclei and demyelination of the corticospinal tract under the midbrain. Although spinal cord lesions were indistinguishable from those of Werdnig-Hoffmann disease, the 2 patients are not considered to have Werdnig-Hoffmann disease from the clinicopathologic findings.
Brain↗