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PubMed1993

Kennedy's disease: genetic diagnosis of an inherited form of motor neuron disease.

Kennedy's disease (X-linked spinal and bulbar muscular atrophy) is an inherited form of motor neuron disease that may be diagnosed genetically using the polymerase chain reaction (PCR). This form of motor neuron disease principally affects the proximal limb girdle muscles as well as those involved with deglutition and phonation. Onset is usually late, in the fourth to fifth decades of life, and progression is slow. Moderate gynaecomastia and testicular atrophy are usually present, suggesting a defect in androgen receptor function. Being inherited in an X-linked recessive manner, only males are affected, with females as the unaffected carriers. The genetic abnormality that causes Kennedy's disease is an enlargement of the androgen receptor (AR) gene, which is located on the proximal long arm of the X chromosome. In patients with this disease, a region in the gene containing repeated CAG triplet nucleotides is approximately twice the size of that found in normal people. Using PCR to amplify this region of the AR gene, this study confirms this genetic mutation in 12 males from eight different families. All these families live on the east coast of Australia. This mutation was not found in five patients with other forms of motor neuron disease. Twelve heterozygote females, the daughters of affected males and carrier females, have also been identified. In addition, there are 14 asymptomatic and as yet untested sons of carriers, ranging in age from less than one year to over 40 years of age. Each has a 50% chance of inheriting the abnormal gene from his mother and thus developing Kennedy's disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2003

Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III.

AIMS: The objectives were to evaluate the clinical course of spinal muscular atrophy (SMA) types II and III patients necessitating scoliosis surgery at the National University Hospital, Singapore. METHODS: A retrospective review of SMA types II and III patients, born over a 10-year period between 1983 and 1992, was conducted. RESULTS: There were eight patients: four with SMA type II and four with SMA type III. The mean age at scoliosis surgery was 9 years 7 months (range 7 years 6 months-12 years 4 months). The mean preoperative Cobb angle was 65.4 degrees (range 43-90 degrees ) and the mean postoperative Cobb angle was 22.6 degrees (range 12-45 degrees ), with a mean correction of 64.8% (range 47.7-77.8%). The decline in percentage predicted forced vital capacity (FVC) was 7.7% (95% CI: 12.4% to 3.0%) per year preoperatively and this was reduced to 3.8% (95% CI: 5.8% to 1.9%) per year postoperatively. The mean length of preoperative and postoperative lung function follow-up was 6.3 months (range 0.03-31 months) and 44 months (range 0-110 months), respectively. CONCLUSIONS: This study suggests that pulmonary function in SMA types II and III continues to decline after scoliosis surgery, though the rate of decline is less marked. Overall, the combined results from this study and all other previously published studies are conflicting in regard to the effect of scoliosis surgery on pulmonary function in SMA types II and III, though half of the studies (3 of 6) did demonstrate a continued decline in lung function postoperatively. This decline in pulmonary function despite spinal stabilization is likely secondary to the progressive neuromuscular weakness of the disease.

Adolescent↗
PubMed1996

Respiratory insufficiency in neuronopathic and neuropathic disorders.

Twenty-nine patients with a neuronopathic or neuropathic disorder were referred for assessment of respiratory insufficiency between 1978 and 1994. Diagnoses included spinal muscular atrophy (6), chronic idiopathic demyelinating neuropathy (4), Vialetto-van Laere syndrome (3), hereditary motor and sensory neuropathy (3) and a miscellaneous group (5). We also describe seven patients with Guillain-Barré syndrome (GBS) who required long-term ventilatory support for over 6 months to 7 years after the initial illness. Respiratory insufficiency occurred as a consequence of respiratory muscle weakness, impaired bulbar function and restrictive lung defects. In some groups presentation was with progressive nocturnal hypoventilation culminating in acute respiratory failure. Five patients with GBS or chronic idiopathic demyelinating neuropathy were weaned from ventilatory support up to 18 months after the initial illness. The remaining 24 patients required continuous or nocturnal ventilatory support using intermittent positive-pressure ventilation (13), negative pressure ventilation (4), nasal-mask-delivered intermittent positive-pressure ventilation (4), nasal-mask-delivered continuous positive-pressure ventilation (3), mouthpiece-assisted ventilation by day (2) and rocking bed (1). None have been weaned from support after a period of ventilation ranging from one month to 10 years. Eight patients have subsequently died.

Adolescent↗
PubMed1978

[Contribution of EMG to the diagnosis of facial nerve and muscle involvement in neurinoma of the VIIIth nerve].

An examination of 5 cases of acoustic nerve neurinoma, and 3 cases where the diagnosis was suspected, showed that EMG signs of a possible facial nerve compression in the ponto-cerebellar angle were represented by abnormal activity at rest, sub-clinical signs of progressive neurogenic atrophy in the hemi-facial muscles, and a significant increase in the latency of the oligosynaptic R1 reflex response.

Cerebellopontine Angle↗
PubMedDate not supplied

[Two cases of polymyositis with cardiac involvement].

Cardiac involvement in polymyositis is more prevalent than previously assumed. A 59-year-old and a 58-year-old man presented with cardiac involvement preceding skeletal muscular lesions, admitted because of increased levels of muscle-derived enzymes and left ventricular dysfunction with ECG abnormalities. Coronary angiography revealed no stenotic lesions. Right ventricular endomyocardial biopsy disclosed myocarditis. Left ventriculography showed local asynergy of cardiac wall motion. After admission the weakness and atrophy of skeletal muscles progressed gradually and high levels of muscle-derived enzymes persisted. Electromyography and skeletal muscle biopsy confirmed the clinical diagnosis of polymyositis. Both patients were diagnosed as having polymyositis with cardiac involvement, and treatment with steroids was started. Symptoms improved significantly, and the CK enzyme level was reduced effectively. The condition of one patient was well controlled, but the other suffered from repeated heart failure due to severe left ventricular dysfunction. The clinical spectrum of polymyositis is wide and variable. Further studies are needed to evaluate the detection, management, and prognosis of the disease as well as the pathogenesis and to prevent progression of cardiac involvement.

Electrocardiography↗
PubMed2001

The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.

Proximal spinal muscular atrophy (SMA) is classified into three main subtypes (I-III), defined by age at onset and achieved motor milestones. As age at onset can be very early in SMA II and III (IIIa, onset < 3 years) and does not necessarily correlate with prognosis, the question arises whether the child can be correctly assigned to a specific SMA type at the time of presentation based on the assessment of motor function. Therefore we studied the motor milestones in 175 SMA type II and 266 SMA type III patients. In SMA II, 73% of the patients sat within the normal age range (up to 9 months), the remainder learned to do so at ages between 10 and 30 months. In SMA III, the walking milestone was passed with delay (given an upper normal limit of 18 months) in 10% of all and 16% of SMA IIIa patients (median age 13 months, range 9-53 months). There was a correlation between late sitting and walking in SMA III, since those who sat after 9 months were responsible for the majority of delayed walkers. The median age when becoming chairbound did not differ between early-onset SMA III patients who walked with delay and those who walked within the normal age range (10.2 versus 10.5 years). In conclusion, a significant proportion of patients with early-onset SMA classified as SMA II on the basis of achieved motor function turned out to be SMA III at later follow-up. It is important to reassess a child in the first 2-4 years, to determine whether walking can be achieved with or without aids, as children who start to walk late have a similar favourable outcome for ambulation compared to earlier walkers.

Adolescent↗
PubMed1984

Monomelic amyotrophy.

From 1977 through 1981, we examined 23 patients with single-limb atrophy. Thirteen had upper-limb and ten had lower-limb involvement. The characteristic clinical features were insidious onset in the second and third decades, male preponderance, sporadic occurrence, wasting and weakness confined to one limb, and absence of involvement of the cranial nerves, cerebrum, brain stem, and sensory system. The electromyographic features, along with histologic features of neurogenic atrophy, were suggestive of an anterior horn cell lesion. The slow progression of illness for two to four years followed by a stationary phase was observed. There was no clinical evidence of involvement of the other three limbs even in patients with long-standing illness of ten to 15 years' duration.

Adolescent↗
PubMed2005

Hypervitaminosis A in the cat: a case report and review of the literature.

A case of hypervitaminosis A with secondary entrapment and compression of the left brachial plexus nerve roots is described. A 9-year-old male castrated domestic shorthair, fed a home-made diet based on raw pork liver, was submitted for examination for a left forelimb lameness that evolved to paralysis over a 2-month period. Clinical examination revealed a flaccid paralysis and atrophy of all left forelimb muscles. An ipsilateral Horner's syndrome was also noted. Radiological examination of the cervical and thoracic spine showed massive new bone formation at the ventral aspect of the second cervical to sixth thoracic vertebra. The diagnosis of hypervitaminosis A was made, based on the clinical and radiographic findings, as well as the determination of serum vitamin A concentration, which was 630 microg/dl, three times above the upper normal limit for this species. Despite the unfavourable initial prognosis, the cat progressively regained function of the affected limb approximately 6 months after the diet was changed to a commercial canned food.

Animal Nutritional Physiological Phenomena↗
PubMed1994

The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function.

Some transcription factors contain stretches of polyglutamine encoded by repeats of the trinucleotide CAG. Expansion of the CAG repeat in the androgen receptor (AR) has been correlated with the incidence and severity of X-linked spinal and bulbar muscular atrophy (Kennedy's disease). In order to understand the relationship of this mutation to AR function, we constructed ARs that varied in the position and size of the polyglutamine tract, and assayed for the abilities of these mutant receptors to bind androgen and to activate transcription of several different AR-responsive reporter genes. Elimination of the tract in both human and rat AR resulted in elevated transcriptional activation activity, strongly suggesting that the presence of the polyglutamine tract is inhibitory to transactivation. Progressive expansion of the CAG repeat in human AR caused a linear decrease of transactivation function. Importantly, expansion of the tract did not completely eliminate AR activity. We postulate that this residual AR activity may be sufficient for development of male primary and secondary sex characteristics, but may fall below a threshold level of activity necessary for normal maintenance of motor neuron function. This functional abnormality may be representative of other genetic diseases that are associated with CAG expansion mutations in open reading frames, such as spinocerebellar ataxia type I and Huntington's disease.

Animals↗
PubMed1991

[Werdnig-Hoffmann's congenital spinal atrophy in nursing infants].

The paper is concerned with an analysis of the anamnestic clinical and histological data on 8 children (6 girls and 2 boys) who died at an age of 3 to 7 months. They had been treated at the Child's Clinical Hospital of Moscow for Hoffmann-Werdnig syndrome, bilateral polysegmental pneumonia, respiratory insufficiency, stage III, hypotrophy, stages II and III, anemia of infectious alimentary etiology. Ground for hospitalization was superaddition of intercurrent infection, the growth of respiratory insufficiency. In spite of intensive care, the children died on days I-III of the stay at the hospital. The clinical analysis of the disease and the autopsy findings allowed a conclusion about the predominance of the early form of Hoffmann-Werdnig syndrome running a rapid progressive course. The immediate cause of the children's death was acute respiratory insufficiency associated with polysegmental pneumonia, spinal amyotrophy.

Critical Care↗
PubMed2005

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

We describe clinical, electrophysiological, histopathological and molecular features of a unique disease caused by mutations in the glycyl-tRNA synthetase (GARS) gene. Sixty patients from five multigenerational families have been evaluated. The disease is characterized by adolescent onset of weakness, and atrophy of thenar and first dorsal interosseus muscles progressing to involve foot and peroneal muscles in most but not all cases. Mild to moderate sensory deficits develop in a minority of patients. Neurophysiologically confirmed chronic denervation in distal muscles with reduced compound motor action potentials were features consistent with both motor neuronal and axonal pathology. Sural nerve biopsy showed mild to moderate selective loss of small- and medium-sized myelinated and small unmyelinated axons, although sensory nerve action potentials were not significantly decreased. Based on the presence or absence of sensory changes, the disease phenotype was initially defined as distal spinal muscular atrophy type V (dSMA-V) in three families, Charcot-Marie-Tooth disease type 2D (CMT2D) in a single family, and as either dSMA-V or CMT2D in patients of another large family. Linkage to chromosome 7p15 and the presence of disease-associated heterozygous GARS mutations have been identified in patients from each of the five studied families. We conclude that patients with GARS mutations present a clinical continuum of predominantly motor distal neuronopathy/axonopathy with mild to moderate sensory involvement that varies between the families and between members of the same family. Awareness of these overlapping clinical phenotypes associated with mutations in GARS will facilitate identification of this disorder in additional families and direct future research toward better understanding of its pathogenesis.

Adolescent↗
PubMed1995

Amyotrophic cervical myelopathy in adolescence.

The clinical and radiological features in seven patients who had asymmetric muscular atrophy of the hand and forearm when young are reported and a new hypothesis for its aetiology is proposed. Investigation of body growth curves (a surrogate for velocity of arm growth) showed close relation between (a) the age when the body height increased most rapidly and the onset age of this disorder, and (b) the age when the rapid body growth period ended and the age when symptom progression ceased. Cervical radiological evidence is provided showing asymmetric anterior cord atrophy, disappearance of slackness of dorsal roots in neck extension, and anterior and lateral displacement of the lower cervical cord against the posterior aspects of the vertebral bodies during neck flexion. These results suggest that disproportionate shortening of the dorsal roots is further accentuated during the juvenile growth spurt, which determines the onset and self limited course of the condition, and that repeated neck flexion causes micro-trauma and relative ischaemia of anterior horn cells, which finally results in atrophy of the muscles innervated by motoneurons with long axons. Predisposing anatomical factors are a straight neck due to lack of physiological cervical lordosis and the presence of foreshortened dorsal roots.

Adolescent↗
PubMed1983

The diagnostic significance of large action potentials in myopathy.

Electromyographic and histopathological studies were performed on 112 skeletal muscles in 101 subjects with myopathy. The diagnostic significance of large action potentials (LAPs) in myopathy was studied. LAPs were defined as those action potentials with a duration of over 13 ms and an amplitude of over 3 mV (peak to peak). The following results were obtained: Most muscles with LAPs showed the grouped atrophy of small fibers of neuropathic change in addition to myopathic findings. Even in myopathy most LAPs reflected neuropathic change, except in thyrotoxic myopathy. LAPs were not related to an increase of connective tissue increasing the impedance in volume conduction of the action potentials. LAPs were frequently seen in: progressive muscular dystrophy of limb-girdle type; scapuloperoneal dystrophy; distal myopathy; oculopharyngeal dystrophy; myotonic dystrophy; polymyositis; and thyrotoxic myopathy. Other types of myopathy had few LAPs. There were two types of progressive muscular dystrophy. One had LAPs frequently and the other, rarely. In myotonic dystrophy the muscles with LAPs showed scattered small angular fibers, possibly indicating neurogenic changes. Interstitial myositis had LAPs more frequently than parenchymatous polymyositis. The chronic phase of polymyositis had LAPs more frequently than the acute or subacute phases. In thyrotoxic myopathy the muscles with LAPs rarely showed definite neuropathic change histopathologically. Therefore, LAPs in thyrotoxic myopathy may not indicate denervation.

Action Potentials↗
PubMed1987

Histopathology of different types of atrophy of the human tongue.

Numerous studies have been devoted to the various histopathologic changes of the surface of the tongue. The muscles of the tongue and their changes in the process of ageing as well as in neurogenic atrophies, however, have not been systematically examined so far. Enlarging upon previous studies, an autopsy material of 170 tongues from all age groups was histologically examined in order to identify the steps in the development of age-related atrophy. These are characterized by a histometrically documented atrophy of the musculature with progressive lipomatosis. Fatty infiltration starts in the 2nd/3rd decade at three sites of predilection: body, root and tip of the tongue in the region of the anterior lingual gland (NUHN). The age-dependent atrophy and the known clinical behaviour of neurogenic atrophies of the tongue are correlated with the histopathology of three typical forms: a neurogenic myasthenic atrophy of the tongue with high-grade symmetrical fatty replacement as an expression of a progressive myasthenic denervation; a lipomatous atrophy of the tongue as a late stage of poliomyelitis and long-term treatment in the "Iron Lung", and a lipomatous hemiatrophy due to posttraumatic extracranial hypoglossus paresis. The paretic part of this tongue consists of 85-90% fatty tissue. The different degrees of muscular atrophy of the tongue are largely compensated by metaplasia of fatty tissue in the perimysium following muscular degeneration (in the sense of a fatty replacement). With the exception of general and severe myasthenic atrophy, size, form and function of the tongue fail to show any significant changes in age-related atrophy and hemiatrophy.

Adolescent↗
PubMed1985

Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome.

We report two brothers who were of consanguineous parents and who displayed a unique association of motor and vocal tics, parkinsonism, distal muscular atrophy, and acanthocytosis. In the older brother, leg weakness and muscle wasting started at age 13, and he became wheelchair bound at 40. Electrophysiologic studies and muscle biopsy confirmed diffuse denervation. Involuntary vocalizations and facial tics began at age 36, but within 5 years the tics were replaced by progressive parkinsonism with supranuclear ophthalmoparesis. CSF studies implied impaired central dopamine and serotonin turnover. In the younger brother, orofacial tics started at age 36, vocalizations and fasciculations in the legs began 1 year later, and parkinsonian findings were present at age 40. This is the first report of an association of Tourettism, parkinsonism, motor neuron disease, and acanthocytosis occurring as an autosomal recessive syndrome.

Acanthocytes↗