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Query: UMLS:C0235394 (wasting)
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Motor neurone disease (MND) is a debilitating and progressive neurological disorder in which degeneration of the motor neurones results in muscle weakness and wasting. Recent high-profile media coverage about assisted suicide and euthanasia has increased awareness of MND and yet still relatively little is known or understood about it, even among the healthcare profession. This article looks at the key areas in management of patients with MND, including the role of the nurse and the importance of a well-coordinated multidisciplinary team. Ways to deal with communication problems, respiratory dysfunction, feeding and nutrition, and legal and ethical issues are examined. Good management of patients with MND involves a hospital and community-based multidisciplinary team. The essence of care is good symptomatic management of respiratory failure and nutritional problems that result from difficulties in swallowing and increasing dependency. Palliative care should be introduced before the terminal stages after careful discussion with the patient and carers. Most patients with MND die from pulmonary infections or respiratory failure, but contrary to popular belief, death by choking attacks is rare and the final stages of MND are usually peaceful and dignified.
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PMID:Nursing role in the multidisciplinary management of motor neurone disease. 1575 Apr 84

X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.
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PMID:X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report. 1583 83

We report the autopsy findings of a 62-year-old man who exhibited progressive FTD 10 years before the appearance of muscle weakness and wasting, and who died approximately 11 years after onset of the symptoms. Degeneration and atrophy of the frontal and temporal lobes, which contained ubiquitin-positive neuronal inclusions and dystrophic neurites, were evident. Circumscribed degeneration affecting the hippocampal CA1-subiculum border zone was also a feature. Moreover, degeneration was present in both the upper and lower motor neuron systems, the latter being more severely affected. A few lower motor neurons were found to contain the cytoplasmic inclusions characteristic of ALS (i.e. Bunina bodies and ubiquitin-positive skeins). Also of interest was the presence of pallidonigroluysian atrophy, which appeared to be responsible for the chorea-like involuntary movements that developed in this patient approximately 2 months before death. The clinical and pathological features of our patient further support the idea that motor neuron disease-inclusion dementia (MND-ID), which has been classified as a pathological subgroup of FTD, is a forme fruste of ALS with dementia. In other words, if patients with MND-ID live long enough, they may develop ALS.
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PMID:Is motor neuron disease-inclusion dementia a forme fruste of amyotrophic lateral sclerosis with dementia? An autopsy case further supporting the disease concept. 1619 38

Diagnosing mitochondrial disorder remains a challenge. In a 75-year-old women, with short stature, muscle cramps, ptosis, fasciculations and progressive, proximal limb weakness and wasting, hyponatriemia, abnormal lactate-stress-test, and slightly abnormal electromyography, muscle biopsy suggested granulomatous myositis. Corticosteroids and azathioprin were ineffective. After a second work-up amyotrophic-lateral-sclerosis was diagnosed. Riluzole was started, without effect. She developed respiratory insufficiency, requiring mechanical ventilation. Apical ballooning was found. After switching to non-invasive positive pressure ventilation and physiotherapy, she markedly improved. After a third diagnostic work-up, mitochondrial disorder was suspected. Unfortunately, she died suddenly from a cardiac arrhythmia at home. Mitochondrial disorder may mimic motor neuron disease, muscle biopsy may mimic myositis, and may show only little evidence for respiratory chain disorder.
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PMID:Consequences of misdiagnosing mitochondrial disorder. 1686 Nov 55

Madras motor neuron disease (MMND) and Madras motor neuron disease variant (MMNDV) have an unique geographic distribution with concentration of majority of cases in the southern states of India. They have the characteristic features of onset in young, weakness and wasting of the limbs, multiple cranial nerve palsies particularly involving the 7th, 9th to 12th and sensorineural hearing impairment. In addition, all patients with MMNDV have bilateral optic atrophy. During the past 32 years, a total of 104 patients were diagnosed to have MMND and among these 25 patients with the familial form were further evaluated. In this report, we describe the clinical features of these 25 patients diagnosed to have familial Madras motor neuron disease (FMMND) or familial Madras motor neuron disease variant (FMMNDV), belonging to 15 families hailing from southern India. There were 10 patients diagnosed to have FMMND and 15 with FMMNDV. There were 14 males and 11 females with mean age at onset of 13.0+/-6.2 years and mean duration of illness of 73.6+/-74.0 months. Notably, the occurrence of MMNDV in the familial group (15 of 25 patients) was significantly more as compared to occurrence in the group with sporadic MMND (SMMND) [12 of 79 patients] (p=0.0002).
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PMID:Familial Madras motor neuron disease (FMMND): study of 15 families from southern India. 1701 Mar 82

Takotsubo syndrome may be associated with neuromuscular disorders, but has never been described in a patient with mitochondrial disorder. A 75-year-old woman developed muscle cramps, ptosis, fasciculations and slowly progressive weakness and wasting of all four limbs, starting 2.5 years earlier. After exclusion of various differential diagnoses, including non-specific granulomatous myositis, inclusion body myositis, and motor neuron disease, mitochondrial disorder was assumed. Muscle weakness progressed to respiratory insufficiency, requiring mechanical ventilation. Five days after intubation, she developed hypotension, torsades de pointes, ST-segment elevation, and negative T waves. Echocardiography revealed apical ballooning with akinesia of the left ventricular anteroseptal, apical, apicolateral and inferior segments. Coronary angiography was normal, and ventriculography confirmed apical hypokinesia and ballooning. Takotsubo syndrome was diagnosed, resolving completely within 7 weeks under bisoprolol. This case shows that Takotsubo syndrome occurs also in mitochondrial disorder and under mechanical ventilation, and may be triggered by stress from respiratory insufficiency, intubation, pain from tracheostomy, stress from mechanical ventilation, medication, or from the uncertain prognosis.
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PMID:Apical ballooning (Takotsubo syndrome) in mitochondrial disorder during mechanical ventilation. 1788 29

Madras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India. The characteristic features are onset in young, weakness and wasting of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. We describe the clinical features and survival pattern in 116 patients with Sporadic MMND, MMND variant and FMMND. A retrospective review of patients' medical records for clinical manifestations, electromyography, imaging, audiological and histopathology findings was performed. Over 36 years (1971 to 2007) 116 patients (men: 59; women: 57) particularly hailing from Southern India were seen. Mean age of onset was 15.8+/-7.9 years. Predominant initial manifestations were impaired hearing with wasting and weakness of distal limb muscles and pyramidal dysfunction. All patients had clinical and/or audiological evidence of hearing impairment. Patients with MMNDV in addition had optic atrophy. The overall mean survival duration was 334.9+/-27.9 months. Thus, Madras motor neuron disease is clinically a distinct entity with features of amyotrophic lateral sclerosis but with young age of onset and presence of auditory neuropathy. Studies to look for environmental and genetic basis of this intriguing disease are necessary to find the causation of this rare disorder.
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PMID:Madras motor neuron disease (MMND): clinical description and survival pattern of 116 patients from Southern India seen over 36 years (1971-2007). 1826 45

The purpose of this study was to review the clinical manifestations of 40 patients who fulfilled the clinical criteria for Hirayama disease (juvenile muscular atrophy of distal upper extremities), identified in our neuromuscular clinic between February 1995 and December 2005. Of these 40 patients, 87.5% were male. The mean age at onset was 16.8 years, which was 4.5 years later than the peak age of the normal growth curve. Progressive muscle weakness and wasting were characteristic and occurred predominantly in the distal part of the right upper limb. Neurogenic symptoms ceased to progress within 5 years in most patients (92.5%). About one third of patients had participated frequently in heavy physical activity before onset of muscle symptoms. Reduced amplitude of the compound muscle action potential of the ulnar nerve was the most prominent finding in nerve conduction studies. Electromyography showed acute or chronic neurogenic changes, most frequently in muscles supplied by the C7-T1 segments. Magnetic resonance imaging showed anterior shifting of the posterior dura and engorged posterior venous plexus at the cervical level in 95% of patients. Our results support the belief that Hirayama disease is a self-limited, focal lower motor neuron disease involving the lower cervical segments. Disproportionate growth between the vertebral column and the contents of the spinal canal may be the underlying cause, and strenuous physical activity may be a precipitating factor.
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PMID:A clinical study of Hirayama disease in Taiwan. 1828 7

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.
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PMID:Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy. 1836 39

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by the progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of voluntary muscles. The purpose of this study was to describe the experience of living with SMA. Strategies used to manage symptoms and progression were also identified. Through e-mail communication, 11 participants were asked to respond to 5 questions about experiences with parents, family, friends, school, and healthcare providers, as well as provide demographic information. Participants were asked to describe their illness and the strategies used to optimize management. Data were analyzed in an ongoing manner through a constant comparative method. The experience of living with SMA was described as challenging and constantly changing. Four major themes were generated that described the experience of living with SMA: establishing strong relationships, normalizing and mainstreaming in society, using an innovative approach to symptom management, and maintaining optimism. Participants described both physical and emotional strategies for symptom management.
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PMID:Understanding the experience of living with spinal muscular atrophy: a qualitative description. 1872 41


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