Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0235394 (wasting)
 8,040 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:[Progressive spinal muscular atrophy and parathyroid adenoma. Clinico-pathologic study of a case]. 264 84

Myotonic dystrophy is associated with progressive muscular atrophy. To define the mechanism of muscle wasting in this disease, we studied myofibrillar proteolysis in vivo in 8 men moderately affected with myotonic dystrophy, and compared the results with those of 10 normal men. Myofibrillar proteolysis was estimated by measuring the 3-methylhistidine arteriovenous difference (A-V) and efflux (Q) across the forearm in the postabsorptive state. Plasma 3-methylhistidine concentrations were determined by high-performance liquid chromatography with postcolumn o-phthalaldehyde derivatization and fluorescence detection. Plasma flow to the forearm muscles (F) was estimated to represent 85% of total forearm plasma flow as determined by the indicator-dilution technique. Forearm 3-methylhistidine efflux was calculated as: Q = F(A-V). Mean muscle mass (24-hour creatinine excretion), lean body mass, and forearm volume were decreased in the patients with myotonic dystrophy, confirming the presence of muscle atrophy. Mean forearm 3-methylhistidine arteriovenous difference and efflux were not significantly different in the two groups. We conclude that myofibrillar protein degradation is not increased in myotonic dystrophy, even when measured in a muscle compartment selectively affected by wasting. Muscle atrophy in myotonic dystrophy is probably the result of defective anabolism rather than accelerated catabolism.
 ...
PMID:Forearm 3-methylhistidine efflux in myotonic dystrophy. 823 62

A clinical study about the pattern of motor neurone disease in eastern India was carried out from July 1993 to June 1995 at Bangur Institute of Neurology, Calcutta and SSKM Hospital, Calcutta. A total of 110 cases were studied and they constituted 0.11% of all neurological cases seen in the general OPD. Of 110 cases, amyotropic lateral sclerosis (ALS) constituted 43.6%, progressive muscular atrophy (PMA) 10.9%, post-polio progressive muscular atrophy (PPMA) 1.8%, spinal muscular atrophy (SMA) 20%, atypical form Madras pattern of MND (MMND) 0.9% and monomelic amyotrophy (MMA) 22.7% of cases. Disease is more common in males than females and average duration of symptoms before presentation varied from 1 to 12 months. Most of the patients were either agricultural labourers or manual workers in ALS variety whereas MMA variety was evenly distributed in both hard labourers and sedentary workers. Most of the patients in MMA and SMA groups presented before 30 years of age whereas ALS and PMA group presented after 30 years. Trauma was the commonest antecedent event in ALS and MMA followed by electrocution in the same two groups. Family history was found to be absent in SMA group though the disease is considered as a hereditary one. Weakness of the limbs and wasting of the muscles were common presenting symptoms and signs. Bulbar symptoms and signs were found only in the ALS group. EMG showed neurogenic pattern and mixed pattern in most of the patients in all groups. Only a few patients showed myopathic pattern. Neuroimaging study helped in exclusion of compressive lesion excepting two cases of MMA where facetal hypertrophy was present. Monomelic amyotrophy, a special variety of motor neurone disease, is not rare in this part as compared to other parts of India and Asia.
 ...
PMID:Pattern of motor neurone disease in eastern India. 926 27

Twelve cases of adult-onset progressive muscular atrophy variant of amyotrophic lateral sclerosis (PMA/ALS) were studied in a small rural population of 1500 in the Republic of Belarus (former Soviet Union). The patients were members of three apparently related kindreds, each showing autosomal dominant pattern of disease inheritance. The average age at clinical onset ranged from 26 to 57 years (mean, 40 years). Each patient suffered from skeletal muscle weakness and wasting, starting in the limbs and spreading to the trunk and neck, with very limited bulbar and no upper motor neuron involvement. Death from respiratory failure occurred from 13 to 48 months (mean, 28 months) after first symptoms. Dramatically decreased number of spinal motor neurons was the most characteristic neuropathologic feature in two autopsied cases. Most of the remaining degenerating neurons contained intracytoplasmic hyaline inclusion bodies. A D101N mutation in exon 4 of the SOD1 gene was identified in a PMA/ALS patient and in one of her three unaffected children. Our data support the view that some subtypes of familial ALS associated with SOD1 mutations may present as PMA. Diagnostic criteria of ALS should be accordingly modified to include the PMA variant of familial ALS.
 ...
PMID:Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). 1098 Mar 8

We report a 55-year-old man with a chief complaint of wasting and weakness of the left quadriceps muscle. At age 54, he noticed difficulty in running and weakness in the left thigh, which gradually progressed. On the first admission to our hospital, based on the nerve conduction studies (NCS), the muscle biopsy findings showing neurologenic changes, and no abnormality of spinal MRI, we diagnosed as unilateral quadriceps amyotrophy, which resulted from an atypical form of spinal progressive muscular atrophy. One year later, he showed the bilateral hand weakness, conduction blocks on the right median and ulnar nerves by NCS, and the presence of serum anti-GM 1 antibody. From these findings, Lewis-Sumner syndrome was diagnosed. The therapy of high-dose intravenous immunoglobulin moderately improved his symptoms. The clinical symptoms of quadriceps amyotrophy is produced by various disorders including spinal progressive muscular atrophy, spinal extradural arachnoid cyst, rimmed vacuole myopathy, Becker dystrophy, limb-girdle dystrophy, and focal myositis. However, there have been no reports of a case of Lewis-Sumner syndrome. It is important to consider Lewis-Sumner syndrome in the differential diagnosis of quadriceps amyotrophy.
 ...
PMID:[Lewis-Sumner syndrome presenting unilateral quadriceps amyotrophy as an initial symptom]. 1133 95

Progressive spinal muscular atrophy (SMA), the most prevalent hereditary lower motor neuron disease, is caused by mutations in the telomeric copy of the survival of motor neuron (SMN1) gene. Unlike other cells, lower motor neurons cannot tolerate low levels of smn protein. However, it is unclear as to the nature of the cell death involved. There is evidence that lower motor neurons undergo apoptosis in SMA, leading to muscle weakness and wasting. This study investigated whether SMN1 regulation in a motor neuron model affected indices of apoptotic cell death. Decreased smn expression in neuroblastoma hybrid (NSC-34) cell lines by small interfering RNA (siRNA) was demonstrated at the mRNA and protein level. Smn-depleted cells showed elevated caspase-3 activity, decreased cell viability and increased percentage of TUNEL positive cells. Conversely, NSC-34 cell smn overexpression by adenoviral gene transfer decreased staurosporine-induced caspase-3 elevation and mitigated induced cell toxicity as assessed by 3-(4,5-dimethyl thiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) assay. However, increased smn expression by itself did not increase cell viability. These data suggest not only that decreased smn levels increase apoptosis in an in vitro model of SMA, but also that increased smn can protect against neural injury.
 ...
PMID:Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy. 1836 39

Frontotemporal dementia (FTD) is a clinical entity that comprises at least two distinct diseases: Pick's disease with Pick bodies and frontotemporal lobar degeneration with tau-negative and ubiquitin-positive inclusions (FTLD-U). FTLD-U is now usually referred to as FTLD-TAR DNA binding protein 43 (TDP-43). FTLD-TDP-43, but not Pick's disease with tau-positive Pick bodies, is often associated with motor neuron disease (MND). More than 200 cases of this combined form, i.e., FTD-MND, have been reported in Japan. The neuropathological characteristics of MND in patients with FTD are essentially similar to the MND in patients without dementia. However the other characteristics of the combination of FTD and MND are such that the author has considered this disease a unique clinicopathological entity. These characteristics are as follows: (1) frontotemporal lobe-type dementia with insidious onset, usually in the presenile period; (2) neurogenic muscular wasting during the course of the illness [amyotrophic lateral sclerosis (ALS)]-- or [spinal progressive muscular atrophy (SPMA)]-like symptoms); (3) duration from the onset of illness to death is 2-5 years (average duration, 30.6 months); (4) both extrapyramidal symptoms and definite sensory deficiency are less commonly observed; (5) no characteristic abnormalities in the cerebrospinal fluid (CSF) or on the electroencephalogram (EEG) in screening tests; (6) no known parental consanguinity or familial occurrence; and (7) nonspecific mild-to-slight degenerative changes in the frontotemporal cortex, hypoglossal nuclei, spinal cord, and frequently in the substantia nigra. FTD-MND is characterized by ubiquitin-immunoreactive intraneuronal inclusions in cortical layers II and III and the hippocampal dentate granule cells. The occurrence of ubiquitin-positive, tau-negative and ubiquitinated TDP-43 positive inclusions could be the key to determining the pathological background of this disease. Further studies are required clinicopathological differentiation between FTD-MND and ALS-dementia (ALS-D).
 ...
PMID:[Yuasa-Mitsuyama disease]. 2130 Oct 35

Motor neuron diseases (MND) are a group of fatal progressive neurodegenerative diseases, which selectively affect the motor system in the anterior horn of spinal cord, brainstem, cortex and pyramidal tract. Motor neurons could be divided into two groups, which are upper groups in the motor cortex and lower groups in the brain stem and spinal cord. Loss of lower motor neurons leads to muscle weakness, wasting and cramps. Loss of upper motor neurons leads to brisk reflexes and functional limits. There are several types of motor neuron disease: amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS). Now, the studies of autophagy in MND focus on the type of ALS, so this chapter will summarize the alteration of autophagy in motor neurons, and how that knowledge contributes to our understanding of the pathogenesis of ALS.
 ...
PMID:Autophagy and Motor Neuron Diseases. 3267 38