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Muscle computed tomography features of motor neuron disease in late-onset GM2 gangliosidosis.

Late-onset GM2 gangliosidosis, a rare inherited neuronal storage disease, is characterized by a variety of clinical manifestations. The common clinical picture comprises neuromuscular, spinocerebellar, extrapyramidal, cognitive, and psychiatric abnormalities. Details of the extent of muscle involvement have never been reported. Eight patients with this syndrome were evaluated for the existence and extent of motor neuron disease using routine electrodiagnosis and systematic evaluation of skeletal musculature by computed tomography. Motor neuron disease was present in each and every patient regardless of the clinical manifestations and to a degree beyond that suspected on neurological examination. Muscle imaging disclosed a diffuse wasting and fatty replacement of muscles with predilection of pelvic and thigh muscles, and especially the quadriceps group. It seems that progressive motor disability in this syndrome is mainly due to motor neuron disease, as manifested by muscle atrophy, which can be easily demonstrated by muscle computed tomography.

Adipose Tissue↗

Neurogenic scapuloperoneal syndrome in childhood.

Two brothers presented with a slowly progressive scapuloperoneal syndrome starting in early childhood. Initially there were myopathic EMG changes, but these changed to those of denervation. Neuromuscular biopsies at an interval of five years confirmed the neurogenic character of the muscle atrophy.

Adolescent↗

In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy.

Among a panel of histone deacetylase (HDAC) inhibitors investigated, suberoylanilide hydroxamic acid (SAHA) evolved as a potent and non-toxic candidate drug for the treatment of spinal muscular atrophy (SMA), an alpha-motoneurone disorder caused by insufficient survival motor neuron (SMN) protein levels. SAHA increased SMN levels at low micromolar concentrations in several neuroectodermal tissues, including rat hippocampal brain slices and motoneurone-rich cell fractions, and its therapeutic capacity was confirmed using a novel human brain slice culture assay. SAHA activated survival motor neuron gene 2 (SMN2), the target gene for SMA therapy, and inhibited HDACs at submicromolar doses, providing evidence that SAHA is more efficient than the HDAC inhibitor valproic acid, which is under clinical investigation for SMA treatment. In contrast to SAHA, the compounds m-Carboxycinnamic acid bis-Hydroxamide, suberoyl bishydroxamic acid and M344 displayed unfavourable toxicity profiles, whereas MS-275 failed to increase SMN levels. Clinical trials have revealed that SAHA, which is under investigation for cancer treatment, has a good oral bioavailability and is well tolerated, allowing in vivo concentrations shown to increase SMN levels to be achieved. Because SAHA crosses the blood-brain barrier, oral administration may allow deceleration of progressive alpha-motoneurone degeneration by epigenetic SMN2 gene activation.

Analysis of Variance↗

[2 families with benign myopathy predominantly on the limb girdle with dominant autosomal heredity].

Very few authenticated cases of benign muscular dystrophy affecting mainly the girdles and of dominant autosomal inheritance have been documented. Two families were seen with this type of transmission, and certain common characteristics noted: proximal weakness and amyotrophy, frequency of muscle contractures, mainly distal, true calf hypertrophy, slow progression and benign nature and finally a fairly uniform semiology in the same family, an atypical finding in dominant autosomal hereditary disease.

Adult↗

[Dynamics of atrophic processes in the rat's muscles under the deficiency of support loads].

In the 14, 3 and 90 day-experiments with tail-suspended rats, histochemical determination of myosin ATP-ase activity in m. soleus and m. gastrocnemius preincubated in acid and neutral media was followed by measurement of the cross-sectional areas (CSAs) of muscular fibers (MF) and calculation of the percentage of various types of MF. By day 30 of testing atrophy in m. soleus reached maximum and stabilized. By that time, MF CSAs were less than in the control by 69, 62, and 68% in MF-I, -IIA and -IIC, respectively. Slow MF underwent the transformation into fast and intermediate. In slow MF this process peaked by day 3 when the number of these fibers decreased by 28% as compared to the control, and stabilized. The transformation of intermediate fibers into the fast ones was progressing simultaneously. This process was not finished by day 90. Atrophy of m. gastrocnemius was less pronounced than in m. soleus. On day 14 of experiment, MF CSAs, except for IIB, were by 30% smaller than in the control. Type IIB MF were less affected as their CSAs decreased by only 17% as compared with the control. On day 90, CSAs in both slow and IIC-type fast MFs remained approximately same as in the rats investigated on day 14. Fast MF CSAs either tended to (IIA) or regained (IIB) the norm. Hence, atrophy in m. gastrocnemius stabilized earlier than in m. soleus. Besides, longer suspension led to a partial or complete reconstruction of two out of three types of fast fibers. The percent ratio of MFs was unchanged; however, during the ATP-ase determination slow IB-type MFs assumed th color typical of fast MFs.

Animals↗

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.

A patient with a severe neonatal variant of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, respiratory depression requiring mechanic ventilation, macrocephaly, severe acidosis and hypoglycaemia. Elevated C5-OH-carnitine in dried blood spot by tandem MS and elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine suggested MCC deficiency, confirmed by enzyme analysis in cultured fibroblasts. Cerebral ultrasonography and cranial CT findings revealed progressive changes such as disseminated encephalomalacia, cystic changes, ventricular dilatation and cerebral atrophy. Treatment with high-dose biotin and protein-restricted diet was ineffective and the patient died at the age of 33 days with progressive neurological deterioration. Mutation analysis revealed a homozygous mutation in the splice acceptor site of intron 15 in the MCC beta-subunit. Early-onset severe necrotizing encephalopathy should be included in the differential diagnosis of isolated MCC deficiency.

Carbon-Carbon Ligases↗

The fasciitis-panniculitis syndrome presenting as complex regional pain syndrome type 1: report of a case.

A 28-year-old man presented with a clinical picture suggestive of complex regional pain syndrome type I following a blow to the thenar eminence and thumb. Symptoms, including swelling of the hand and distal forearm, progressed until an amputation was carried out to rid the patient of an unendurable painful and nonfunctioning wrist and hand. The histologic evaluation of the amputation specimen showed: 1) dermal edema, perivascular dermatitis, and epidermal hyperkeratosis; 2) subcutaneous chronic inflammation with subtotal replacement of the adipose lobules by fibrous tissue associated with thickening of the muscular fascia, implying the fasciitis-panniculitis reaction pattern; 3) atrophy, degeneration, necrosis, and focal calcifications of the skeletal muscles; 4) phlebosclerosis, phlebectasias and lymphocytic arteritis; and 5) increased cortical porosity of the bones. It seems that the pathogenetic process underlying the fasciitis-panniculitis syndrome may rarely manifest as a complex regional pain syndrome-like disorder.

Adult↗

[Prenatal ACTH-depot therapy].

ACTH-depot therapy is one of the therapeutic methods in threatening abortion or premature labor, introduced by Prof. R. Klimek in the 60-ies of the last century. Administration of syntetic ACTH is the method of first choice in treatment of neuroendocrinologically complicated pregnancy, safe for mother as for infant. The first trials of application of this method disclosed good results determined by very high birth rate of at term pregnancies (96%) and delivery of live infants, in comparison to 18.5% or 37% supported pregnancies treated conservatively, in the same group of women previously. Because hypothalamic hormones induce synthesis of enzyme-oxytocinase, it becomes possible to observe the development of pregnancy in women treated with ACTH-depot by CAP-level determination. In women with hypothalamic hypofunction, level of oxytocinase is low, increasing slowly, sometimes even its decrease is observed. Current multiple ACTH-depot doses: 0.5 mg i.m. are routinely used, instead of hitherto applied series of 3 injections in the second and third trimester. Number of doses depend on: levels of oxyto-cinase, rate of its increase, reactivity of patient and progression of pregnancy. Administration of ACTH-depot seems to be more beneficial than aministration of corticoids, because this hormone does not cross the placenta, but increases the production of endogenic hormones. Unwelcome symptoms of ACTH-depot treatment are similar to those observed in course of the corticold therapy, but they are less expressed. Development of features connected with hypercatabolism of proteins like: muscular atrophy, striae and osteoporotic changes, are not observed. Only single therapy with ACTH-depot causes regression of clinical symptoms of threatening premature labor, without necessity of tocolitic treatment. Thanks to steroidogenesis, normalisation of the number of preterm labors and respiratory disorders decreases.

Abortion, Spontaneous↗

[A case of Hoffmann's syndrome with peripheral neuropathy and various pathological findings in muscle biopsy].

A 58-year-old hypothyroid man developed numbness in the extremities and muscular hypertrophy without pain. Needle electromyography was normal. Nerve conduction study revealed severe entrapment and impaired conduction velocity. Muscle biopsy demonstrated small group atrophy, scattered hypertrophic fibers, interstitial fibrosis and subsarcolemmal vaculoes. These vacuoles were stained dark with NADH-TR. On electron microscopy these vacuoles were filled with aggregated mitochondria and glycogen particles. These myopathological findings have been rarely described in Hoffmann's syndrome or Kocher-Debré-Semelaigne syndrome in the literature. Sural nerve biopsy revealed a loss of myelinated fibers in large diameter and relative increase in small diameter fibers. Teased fiber examination demonstrated segmental demyelination. The nerve biopsy findings indicate slowly progressive axonopathy. In Hoffmann's syndrome, associated peripheral neuropathy may play some role in the manifestation of clinical signs and symptoms including muscle weakness and some sensory disturbance.

Humans↗

Skeletal muscle hypertrophy and atrophy signaling pathways.

Skeletal muscle hypertrophy is defined as an increase in muscle mass, which in the adult animal comes as a result of an increase in the size, as opposed to the number, of pre-existing skeletal muscle fibers. The protein growth factor insulin-like growth factor 1 (IGF-1) has been demonstrated to be sufficient to induce skeletal muscle hypertrophy. Over the past few years, signaling pathways which are activated by IGF-1, and which are responsible for regulating protein synthesis pathways, have been defined. More recently, it has been show that IGF-1 can also block the transcriptional upregulation of key mediators of skeletal muscle atrophy, the ubiquitin-ligases MuRF1 and MAFbx (also called Atrogin-1). Further, it has been demonstrated recently that activation of the NF-kappaB transcription pathway, activated by cachectic factors such as TNFalpha, is sufficient to induce skeletal muscle atrophy, and this atrophy occurs in part via NF-kappaB-mediated upregulation of MuRF1. Further work has demonstrated a trigger for MAFbx expression upon treatment with TNFalpha--the p38 MAPK pathway. This review will focus on the recent progress in the understanding of molecular signalling, which governs skeletal muscle atrophy and hypertrophy, and the known instances of cross-regulation between the two systems.

Gene Expression Regulation↗

Cricopharyngeal muscle hypertrophy associated with florid myositis.

Hypertrophy of the cricopharyngeal muscle is a serious clinical condition that can cause severe dysphagic symptoms, including prolonged deglutition and postdeglutitive aspiration. Although the therapeutical concepts are well established, the pathogenic mechanism of cricopharyngeal hypertrophy remains unclear. We present a patient with a ten-year history of progressive dysphagia. The neurological and MRI findings were normal. However, videocineradiography showed severe hypertrophy of the cricopharyngeal muscle. This condition was first treated by injections of botulinum toxin, which did not alleviate the symptoms. Next, myotomy and muscle biopsy were performed. Histological evaluation disclosed lymphoplasmacellular florid myositis, single-fiber atrophy, and muscle fiber necrosis with phagocytosis. There were no signs of inclusion body myositis or oculopharyngeal muscular dystrophy. Our finding of severe cricopharyngeal muscle hypertrophy associated with myositis has been published previously (n = 34). The study presented here shows cricopharyngeal dysphagia associated with various systemic diseases, including motor neuron disease, general granulomatous disease, dermatomyositis, or inclusion body myositis. Isolated changes of the cricopharyngeal muscle were described in 65% of the cases.

Aged↗

[Ultrastructural and clinical studies in "inclusion body myositis" (author's transl)].

A non-hereditary slowly progressive neuromuscular disease occuring in a 39-year-old male, consisting of an asymmetrical wasting of the muscles of the shanks, is reported. Neither clinical nor electromyographic criteria can safely distinguish whether a primary neurogenic or a primary myogenic process is causally involved. The initial rise in serum CPK-activity indicates a myopathic origin. The lightmicroscopic aspect of the muscle-biopsy shows a muscular atrophy which resembles a primary neurogenic pattern with grouped clusters of atrophic fibers as well as a myopathic or rather myositic tissue-pattern with randomly scattered atrophic fibers. In addition there are numerous vacuoles which are equivalent to concentric lamellae of dense material in electronmicroscopy. Numerous fibrillary inclusions as well in the cytoplasm as in the cell-nucleus correspond to typical alterations in the so-called "inclusion body myositis". The disease is critically discussed as a nosological entity among neuromuscular disorders.

Adult↗

Duchenne dystrophic muscle develops lesions in long-term coculture with mouse spinal cord.

When strips of human skeletal muscle from biopsies of normal children and donors with Duchenne muscular dystrophy (DMD) are explanted in organotypic coculture with fetal mouse spinal cord, many regenerating muscle fibers develop, become innervated, and maintain a remarkable degree of mature structure and function for more than 3-6 months in vitro. Sequential light microscopy in correlation with electron-microscopic and electrophysiologic analyses showed that despite cross-species innervation, these human muscle fibers develop stable cross-striations, peripherally positioned myonuclei, and mature, functional motor endplates. Of special interest is the onset of significant progressive abnormalities, e.g., unusual focal myofibrillar lesions, in substantial numbers of innervated mature DMD muscle fibers after 2-4 months in culture. The focal myofibrillar lesions were not detected in normal muscle fibers maintained as long as 6 months in coculture, nor are they comparable to the generalized loss of cross-striations observed in muscle atrophy following in vitro denervation of mature DMD fibers.

Animals↗

Physical activity, health impairments, and disability in neuromuscular disease.

Reduced physical activity is a consequence of progressive neuromuscular diseases, which negatively impacts quality of life and health outcomes. Reduced functional muscle mass is common to all neuromuscular diseases and results from both atrophy of disuse secondary to a sedentary lifestyle and muscle degeneration secondary to the disease itself. This review summarizes current concepts relating to the impact of reduced physical activity on health and fitness, potential determinants of physical activity levels in neuromuscular diseases, and new approaches to the quantitative measurement of physical activity in neuromuscular disease populations. The interrelationship of disease pathophysiology, impairment, functional limitation, disability, and societal limitation in the determination of physical activity in the community in neuromuscular diseases is discussed using Duchenne muscular dystrophy as an example. Future research pertaining to physical activity in neuromuscular disease will need to focus on the development of scientifically based recommendations concerning optimal exercise approaches with both disease-specific and general guidelines.

Persons with Disabilities↗

The fetal cleft palate: III. Ultrastructural and functional analysis of palatal development following in utero repair of the congenital model.

The role of fetal surgery in the management of congenital anomalies and intrauterine abnormalities is appropriately restricted on the basis of feasibility and risk-to-benefit analyses of intrauterine intervention. Recently, the authors demonstrated that in utero cleft palate repair of the congenital caprine model is technically feasible and results in scarless healing of the mucoperiosteum and velum, with subsequent development of a potentially functional bilaminar palate with distinct oral and nasal mucosal layers, following single-layer repair of the fetal mucoperiosteal flaps. A slight indentation at the site of repair was the only remaining evidence of a cleft. At 6 months of age, normal palatal architecture, including that of mucosal, muscular, and glandular elements, was seen grossly and histologically. The present work investigated the ultrastructural and functional aspects of the palate following in utero cleft repair to determine what benefits might be derived from fetal intervention. Six goats pregnant with twins were gavaged twice daily for 10 days (gestational days 32 to 41; term, 145 days) with dry, ground Nicotiana glauca plant delivering between 2.4 and 14 mg/kg per day of anabasine, doses that were adjusted in response to mater-nal toxicity. At 85 days' gestation, six fetuses underwent in utero palatoplasty using a modified von Langenbeck technique with elevation of bilateral mucoperiosteal flaps and lateral relaxing incisions. A single-layer repair of the mucoperiosteal flaps was performed using interrupted 6-0 Vicryl sutures. Six fetuses remained as unrepaired clefted controls. Six months after in utero palatoplasty, each group of goats underwent nasoendoscopy to evaluate palatal function; two unclefted 6-month-old goats served as controls. Subsequently, soft palate muscle was harvested from each of the goats and was evaluated by light and electron microscopy. Velar muscle was also harvested from the unclefted control goats and was similarly studied. Nasoendoscopy demonstrated functional palates capable of dynamic velopharyngeal closure following in utero cleft repair; this motion was similar to that observed in unclefted animals. Unrepaired clefted goats did not demonstrate any evidence of velar motion or velopharyngeal closure. Soft palate muscle from this group demonstrated evidence of myofibril degeneration, atrophy, and loss compared with unclefted control velar muscle. Ultrastructural changes included sarcomere "scalloping, " partial Z-line degeneration and loss, and progressive I-band degeneration and loss. Repaired clefted soft palate muscle was remarkably similar to unclefted control muscle. Significantly less myofibril, Z-line, and I-band degeneration and loss were observed with minimal evidence of sarcomere scalloping. In utero cleft palate repair results in a functional soft palate with restoration of ultrastructural architecture of the velum. These findings were attributed to reconstitution of the velar muscular sling, which is disrupted during the clefting process and remains abnormally inserted into the posterior edge of the palatal bone and along the bony cleft. Although repaired velar muscle does demonstrate some evidence of ultrastructural change compared with control muscle, these findings are significantly less pronounced than those observed in the unrepaired clefted muscle.

Animals↗

[Birth and metamorphosis of Landouzy-Dejerine progressive atrophic myopathy].

On June 20th, 1880, was admitted at the "Hôpital de la Charité" in Paris, a 21 years-old man showing a very severe atrophy of most of his muscles. This case was going to mark the history of the neuromuscular diseases. In the present article are presented the main clinical, genetic, electrophysiological and anatomical data of this patient. It was tried to reconstitute how they were presented to Landouzy and Dejerine, who found in these data some of the features previously reported by Duchenne, de Boulogne, in 1852 as "atrophie musculaire progressive", and considered after the first post-mortem examination by Cruveilhier (1853) as being of neurogenic origin. In opposition with this theory, Landouzy and Dejerine proposed to refer to their case as "myopathie atrophique progressive", emphasizing thus the concept of "myopathy without neuropathy". The criteria proposed for the recognition of the new entity were perfectly described in their two memoirs (1885 and 1886). The characters of facial involvement, the occasional early onset, the selective and often asymmetrical weakness and atrophy of the limb muscles, the variability in severity from one member to another in the same family, were clearly showed. Furthermore, two cases reported in the 1886 memoir presented some involvement of the facial muscles which was demonstrated only by histological examination. The present article evokes the polemical discussion about the relationship of the "myopathie atrophique progressive" with the juvenile form of muscle dystrophy described by Erb at the same time, but without any anatomical or histological data. It is indicated also how the different views about the "scapulo-humeral" forms led to some metamorphosis of the "myopathie atrophique progressive" in "facio-scapulo-humeral dystrophy" in further classifications. This article is illustrated with micrographs taken from the original sections of Dejerine, which could be traced up to now and probably are reproduced photographically here for the first time.

Adult↗

[Carpal tunnel syndrome: clinical and electrologic forms. Results after neurolysis (88 cases)].

Eighty-eight neurolyses of the median nerve in the carpal tunnel were performed. Clinical, anatomical and electrological characteristics allowed to classify the carpal tunnel syndromes in painful and dysesthesial type, in types with progressive (electromyographical, clinical, complete, incomplete) or acute hand muscle atrophy. After neurolysis, clinical and electrological results were analysed and correlated with initial severity of the chronic median nerve entrapment in the carpal tunnel.

Carpal Tunnel Syndrome↗