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PubMed1992

Multifocal motor neuropathy with conduction block: is it a distinct clinical entity?

We studied 169 patients with motor neuron disease. Seventeen showed abnormal amplitude reduction of the compound muscle action potential. Ten had focal loss of both amplitude and area across a specific segment (conduction block). Eight of the 10 had slowing of conduction across that segment. Nine were men and had prominent hand involvement. Six had probable or definite upper motor neuron signs. Five of the 10 showed immunologic abnormalities (elevated GM1 antibody titers or paraproteinemia), and eight had had symptoms for more than 4 years. Seven of the 17 patients showed loss of amplitude without corresponding loss of area and focal slowing of conduction (temporal dispersion). Five of the seven were men, five had prominent hand involvement, and five had definite or probable upper motor neuron signs. Two had immunologic abnormalities, and ony one had had symptoms for longer than 4 years. Among 152 patients with no abnormality of conduction, 64% wee men, hands were dominantly involved in 34%, upper motor neuron signs were definite or probable in 72%, and 3% had immunologic abnormalities. None had symptoms for more than 4 years. Because there were so many exceptions, we could not define a unique syndrome by criteria involving conduction block, GM1 antibodies, or lack of upper motor neuron signs. The clinical syndrome associated with multifocal conduction block seemed uniform, however, and patients with conduction block had slower progression if there were no upper motor neuron signs.

Action Potentials↗
PubMed1992

[A case of early onset cerebellar ataxia with hearing loss, mental disturbance and primary hypogonadism].

A 14-year-old girl, whose birth and developmental history were normal till the age of 7, was admitted to our hospital because of slowly progressive difficulties in walking, speaking and hearing. She also complained of absence of menstruation. She showed poor school records since the age of 7. On neurological examination, she showed limb and truncal ataxia. There was no nystagmus but slurred speech was found. Muscular power was good and her sensory system was normal. Tendon reflexes were equally present, and plantar reflexes were flexor. Bilateral moderate nerve deafness was also present. Mental deficiency was diagnosed on an intelligence test. Brain CT and MRI showed cerebellar atrophy. Gynecological examination revealed scanty pubic hair and small uterus. Karyotype was 46XX. Endocrinological studies demonstrated high level of FSH, low level of E2, and the normal response to pituitary stimulation with LHRH, indicating the existence of primary hypogonadism. Although the etiology of this multisystem disorder is unknown, it is possible that both nervous and endocrine disorders were genetically determined.

Adolescent↗
PubMed1984

Familial myopathy associated with Marfanoid features and multicores.

The cases of a mother and son with a slowly progressive generalised myopathy and Marfanoid features are described. Muscle biopsies showed atrophy, type 1 fibre preponderance, excessive variation in fibre size and shape, and multiple foci of myofibrillar disorganisation with loss of oxidative enzyme activity of the type found in multicore disease.

Adult↗
PubMed1995

[A 54-year-old man with progressive proximal muscle atrophy and gynecomastia].

We report a 54-year-old man with progressive proximal muscle atrophy and gynecomastia. The patient had an insidious onset of weakness in his lower extremities at age 14, in that he noted a difficulty in standing up from a chair. Soon after he noted some difficulty in climbing up stairs. At age 35, he noted weakness in his arms; his weakness slowly progressed in that he became unable to walk or stand alone before 40 years of age. He also noted gynecomastia at that age. He was admitted to our hospital for the work up on September 16, 1993, when he was 54-year-old. On admission, he was alert and oriented; his BP was 150/70 mmHg; he had bilateral gynecomastia, however, no other skeletal deformities were found. On neurologic examination, he was mentally sound without dementia, and his higher cerebral functions were normal. Cranial nerves also appeared intact without facial atrophy, dysarthria, or dysphagia; no atrophy was noted in the tongue. He had marked muscle atrophy in both upper and lower extremities more marked in the proximal portions; muscle strength was approximately in the range of 2/5 to 3/5 in the proximal parts, and 4/5 in the distal parts in both upper and lower extremities. No fasciculation was noted; muscle tone was flaccid; no ataxia was present. Deep reflexes were either lost or markedly diminished. No Babinski sign was noted. Sensation was intact. Laboratory examination revealed normal blood counts; serum CK was slightly increased to 131 IU/l; ECG showed complete right bundle branch block; EMG revealed no active units in the right biceps brachii, deltoid, quadriceps femoris, and triceps surae muscles; in other muscles tested, motor unit potentials of low amplitude and short duration were seen; in the right tibialis anterior muscle, however, motor unit potentials with an amplitude up to 6 m V were also seen. Nerve conduction velocities were normal. A diagnostic procedure was performed. He was discussed in the neurological CPC, and the chief discussant arrived at the conclusion that this patient had Becker type of progressive muscular dystrophy. In her differential diagnosis, the possibility of Kennedy-Alter-Sung syndrome was discussed because this patient had gynecomastia. However, the discussant excluded that possibility because of absence of both bulbar symptoms and typical neurogenic changes in his EMG. The diagnostic procedure was a muscle biopsy on the left tibialis anterior muscle. Histologic observation on HE stained specimens revealed marked inequality in the muscle fiber diameters, increase in endomysial nuclei, proliferation of connective tissue, and fiber splitting.(ABSTRACT TRUNCATED AT 400 WORDS)

Diagnosis, Differential↗
PubMed2006

Neuromuscular abundance of RB1CC1 contributes to the non-proliferating enlarged cell phenotype through both RB1 maintenance and TSC1 degradation.

RB1-inducible coiled-coil 1 (RB1CC1) is a novel tumor suppressor implicated in the regulation of RB1 expression. It is abundant in post-mitotic neuromuscular cells, which are matured and enlarged, but scarce in smaller leukocytes, indicating an association between RB1CC1 status and cell size. To clarify whether RB1CC1 is involved in cell size control, we investigated the contribution of RB1CC1 to the TSC-mTOR pathway, which plays an important role in the control through translational regulation. RNAi-mediated knockdown of RB1CC1 reduced the activation of mTOR and S6K as well as the size of HEK293 and C2C12 cells. Such knockdown also suppressed RB1 expression and the population of G1-phase cells. Exogenous expression of RB1CC1 maintained S6K activity and cell size, and decreased TSC1/hamartin contents under nutritionally starved conditions, which usually inhibit the mTOR-S6K pathway. Furthermore, RB1CC1 interfered with and degraded TSC1 through the ubiquitin-proteasomal pathway. A lentiviral RNAi for RB1CC1 reduced the size of mouse leg muscles. These findings suggest that RB1CC1 is required to maintain both RB1 expression and mTOR activity. The activity of mTOR was supported by RB1CC1 through TSC1 degradation. RB1CC1 preserved cell size without cell cycle progression especially in neuromuscular tissues, and the abundance contributed to the non-proliferating enlarged cell phenotype.

Animals↗
PubMed1996

[Juvenile and adult forms of spinal muscular atrophies].

We propose a classification system for spinal muscular atrophies (SMA) based on the distribution of clinical signs, paresis and atrophy, as well as on the location of the responsible gene and the resulting enzyme deficiency, whenever these are known. This highly practical classification system encompasses three large SMA groups, as follows. A) Generalized forms, many of which are hereditary, are generally transmitted in a recessive autosomal manner. The course of disease is more severe when symptoms manifest early. Patients whose symptoms first occur after the first year of life often reach adolescence and even adulthood, confirming a highly apparent congruence of intermediate and pseudomyopathic juvenile forms. The same genetic defect, deletion in the 5q11-13.3 locus, that is responsible for acute infantile SMA has been demonstrated in both the aforementioned forms. B) Focal forms are restricted and often isolated cases; when they are hereditary, the genetic profile is highly heterogeneous. Though the disease will not necessarily evolve, it may progress to a generalized form. Focal forms may be symetric, assymetric, spinal-bulbar or multisegmental. The genetic abnormality has been identified for only some forms, such as chronic bulbar-spinal amyotrophy linked to the X-chromosome, at whose location, Xq11, the androgenic receptor is found. C) Amyotrophic lateral sclerosis (ALS) manifests clinically in a variety of ways and may be isolated, familial, juvenile or associated. Familial ALS is related to a gene defect in the 21q22.1 location that codifies for the superoxide dismutase enzyme. One juvenile form of ALS is related to a defect in the 2q33-35 chromosome. Any type of SMA can be related to degenerative neuronal disease of the central nervous system, especially juvenile ALS with generalized SMA, although such a link is at present merely an attractive hypothesis. Specific bibliographic references are given for each SMA form. Figures are provided to illustrate most of the SMA forms included in this classification system, the patients being at this time older adolescents and adults whose disease has been in evidence over many years.

Adolescent↗
PubMed1994

Benign monomelic amyotrophy of lower limb: a rare entity with a characteristic muscular CT.

Six patients presented with amyotrophy confined to a single lower limb and characterized by insidious onset, slow progression and later stabilization. Wasting was out of proportion with disability and there were no sensory, pyramidal tract or bulbar signs. All cases were sporadic, and there was no history of poliomyelitis. CK, anti-ganglioside antibodies, motor and sensory conductions were normal. Quantitative EMG and muscle biopsy revealed neurogenic features also in clinically unaffected limbs. Muscular CT showed selective or predominant, asymmetrical involvement of posterior leg muscles and caput longus of biceps femoris. Monomelic amyotrophy of lower limb is a clinically localized variant of spinal muscular atrophy with a particularly benign course. Although in the early stage there are no clinical or laboratory findings which allow differential diagnosis with other motor neuron diseases, the history of an amyotrophy clinically localized for more than 3 years to a lower single limb and the characteristic muscular CT pattern suggest the diagnosis since the first observation and indicate a favorable prognosis.

Adult↗
PubMed2002

p27Kip1: a key regulator of skeletal muscle satellite cell proliferation.

Given the complex process of sarcopenia, it has been postulated that a diminished satellite cell proliferation potential could become rate-limiting to the regrowth of old muscles. Therefore, it is conceivable that if satellite cell proliferative capacity can be maintained or enhanced with advanced age, sarcopenia potentially could be delayed or prevented. The emerging role(s) of a cell cycle regulator, p27Kip, and its role in the regulation of satellite cell proliferative capacity are reviewed. A novel inverse association between the proliferation capacity and p27Kip protein abundance in skeletal muscle satellite cells was observed. Strikingly, with the introduction of ectopic p27Kip via an adenovirus vector, there was a marked growth arrest induced in proliferating cultured satellite cells, despite the presence of a strong mitogenic stimulus. Therefore, p27Kip is proposed to be a key regulatory factor, particularly in its ability to regulate satellite cell cycle progression. In the larger context, such results implicate p27Kip as one of the key molecules governing the regulation of skeletal muscle regrowth, hypertrophy, or both.

Animals↗
PubMed1999

Familial scapuloperoneal myopathy and mitochondrial DNA defect.

The authors present 13 members of 4 generations in a family with scapuloperoneal myopathy. The disease showed autosomal dominant inheritance. In all 6 patients examined, the disease began in the third decade (18-31 years). Initially the shoulder girdle was involved, and the process slowly spread to the distal part of the lower extremities in several years or decades. The facial and pelvic muscles were only moderately involved; ocular muscle involvement was absent. Myopathy was proved by electromyography and muscle biopsy. In 1 case, electrophysiological evidence of peripheral neuropathy was found, and in 3 other patients central nervous system involvement (dementia, epilepsy) and optic atrophy complicated the syndrome. In the youngest patient, a mutation could be found in the 'hot-spot region' of the muscle mitochondrial DNA by polymerase chain reaction.

Adult↗
PubMed1993

[Centronuclear myopathy].

A 19 year-old patient, second child of a non consanguinous marriage, was evaluated because of the patient progressive mental retardation and muscular weakness from infancy. Six maternal uncles non had died of unknown cause in the first year of life, and his mother had 3 spontaneous miscarriages; the two sisters of the patient were healthy. Clinical examination demonstrated a severe mental retardation, discrete proximal muscular weakness as well as universal areflexia. The muscular enzymes were elevated and the electrophysiologic study showed normal neurographic parameters and abundant generalized spontaneous activity with a mixed type contraction pattern. Histologic examination of the muscle was diagnosed as myopathy with atrophy of type I fibers and central nuclei and upon cranial nuclear magnetic resonance (NMR) images suggestive of perinatal hypoxic-ischemic encephalopathy were observed.

Adult↗
PubMed1988

Scapuloperoneal neuropathy: a distinct clinicopathologic entity.

Peripheral neuropathy as a cause for the scapuloperoneal syndrome continues to be controversial. This report provides further evidence in support of a scapuloperoneal neuropathy as a separate nosologic entity. Three men had a slowly progressive disorder of 5-17 years duration with prominent weakness and atrophy of scapular stabilizer, shoulder girdle and distal lower extremity muscles accompanied by a distal pan-modality sensory loss. Electrodiagnostic studies and sural nerve biopsies indicated a primary axonal neuropathy with secondary demyelination and remyelination.

Aged↗
PubMed2006

Neurohistologic and ultrastructural lesions in cattle experimentally intoxicated with the plant Prosopis juliflora.

Intoxication by pods of Prosopis juliflora (mesquite beans) causes an impairment of cranial nerve function in cattle and goats. In goats, vacuolation of neurons in the trigeminal motor nuclei has been reported. To study the lesions in cattle caused by consumption of P. juliflora pods and dry ground pods, eight 6- to 12-month-old male cattle were divided into 4 groups: group 1 was fed a ration containing 50% of pods; groups 2 and 3 received a ration containing 50 and 75% of dry ground pods, respectively; group 4 was the control. After 200 days, all cattle were killed and sampled for histologic evaluation. Samples of the trigeminal motor nucleus were examined by electron microscopy. All cattle from groups 1, 2, and 3 showed clinical signs resulting from impaired function of cranial nerves V, IX, X, and XII, starting 45-75 days after consumption of the plant. The main histologic lesions were vacuolation and loss of neurons in trigeminal motor nuclei and other motor cranial nerve nuclei with Wallerian-like degeneration in the cranial nerves. Mild denervation atrophy was observed in the masseter and other masticatory muscles. On electron microscopy, neurons of the trigeminal nuclei had markedly swollen mitochondria, with the mitochondrial cristae displaced peripherally, disoriented and disintegrating. Intoxication by P. juliflora seems to have a novel pathogenesis, characterized by a selective, primary, chronic, and progressive injury to mitochondria of neurons of the trigeminal and other cranial nerve nuclei. Cranial nerve degeneration and denervation atrophy of the muscles occurs as a consequence of the neuronal lesion.

Animals↗
PubMed1983

Inhibition of the expression of pathology in dystrophic mouse leg muscles by immobilization.

Normal and dystrophic calf muscles of young mice of the Bar Harbor strain Re 129 were immobilized with the foot in an extended position. Two weeks after treatment the muscles were examined morphologically. Immobilization resulted in the inhibition of fibre necrosis and, consequently, of regeneration. In the contralateral leg these processes progressed unhampered and gave rise to typical dystrophic features. As a result of treatment there was some muscle fibre atrophy. The results clearly indicate that injury of muscle fibres is of a true "myogenic" nature, and that mechanical, i.e. contractive, activity is an important factor inducing damage to the sarcolemma of dystrophic muscle fibres.

Animals↗
PubMed1984

[Polyneuropathy in the course of hyperthyroidism: report of a case].

The authors report a pertinent documented with subsidiary examination uncommon case of sensitive-motor polyneuropathy, in the course of hyperthyroidism, looking like be coherent to give it the name of "thyrotoxic polyneuropathy". In despite of few scientific works on this subject, strong arguments are presented intending to link the process of hyperthyroidism and the progressive degeneration, distal, symmetric and simultaneous, of peripheric nerves. Final considerations show the difficulty of recognizing the etiopathogeny of the degenerative process of peripheral nerves remembering the possibility of toxic, carencial or auto-immune nature.

Adult↗
PubMed1990

Histopathological changes in paravertebral muscles by chronic discopathies.

Samples of paravertebral muscles were obtained from the lesion sites of forty patients operated on for recurrent lumboischiadic syndrome of discogenic etiology. None of the specimens was physiological. All of them were pathologically altered in various grades of involvement. The histopathological changes were highly varied. The findings included muscle fibre atrophy of a nonspecific type, neurogenic atrophy of typical fascicular distribution. Apart from atrophic fibres there were hypertrophic ones either at the same time or in connection with another histopathological process. Changes of myopathic nature were also present with rounded up muscle fibres and shift of nuclei from the subsarcolemnic spaces into the centre of the muscle fibre, multiplication of the connective tissue and vicarious growth of adipose tissue. The visible neuromuscular spindles contained thickened connective tissue capsules and atrophied intrafusal fibres. The present authors' conclusion of their interpretation of these histopathological changes is that they are not produced by one but by a whole set of factors. What results is a cyclic nature of the changes, when it is hard to decide whether we are facing a primary cause or its sequela. The regular company of discopathies are repeated microtraumas during recurrent paravertebral contractures and spinal blocks. A not negligible part can be played also by primary muscle diseases affecting, among others, back muscles, e.g. progressive muscular dystrophy of Duchenne's and Becker's type, various myopathies, nonspecific myositis and paravertebral polymyositis, and other rheumatological involvement. These muscular diseases with disturbed proprioception causing unphysiological posture and loading the spine can share in the origin degenerative processes on intervertebral disks.

Adult↗
PubMed1995

The post-polio syndrome as an evolved clinical entity. Definition and clinical description.

Post-polio syndrome (PPS) refers to the new neuromuscular symptoms that occur at least 15 years after stability in patients with prior acute paralytic polio-myelitis. They include: (1) new muscle weakness and atrophy in the limbs, the bulbar or the respiratory muscles [post-poliomyelitis muscular atrophy (PPMA)] and (2) excessive muscle fatigue and diminished physical endurance. PPS is a clinical diagnosis that requires exclusion of all other medical, neurological, orthopedic or psychiatric diseases that could explain the cause of the new symptoms. Routine electromyography is useful to confirm chronic and ongoing denervation and exclude neuropathies. Muscle biopsy, single fiber electromyography (EMG), macro-EMG, serum antibody titers to polio virus, and spinal fluid studies are very useful research tools but they are rarely needed to establish the clinical diagnosis. PPS is a slowly progressive phenomenon with periods of stability that vary from 3 to 10 years. Current evidence indicates that PPS is the evolution of a subclinically ongoing motor neuron dysfunction that begins after the time of the acute polio. It is clinically manifested as PPS when the well-compensated reinnervating process crosses a critical threshold beyond which the remaining motor neurons cannot maintain the innervation to all the muscle fibers within their motor unit territory.

Fatigue↗
PubMedDate not supplied

[Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years].

INTRODUCTION: Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. PATIENTS AND METHODS: We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. RESULTS: Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome. CONCLUSIONS: Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached.

Child↗