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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↗
PubMedDate not supplied

Protein aggregation and pathogenesis of Huntington's disease: mechanisms and correlations.

The formation of insoluble protein aggregates is a hallmark of Huntington's disease (HD) and related neurodegenerative disorders, such as dentatorubral pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA) and the spinocerebellar ataxia (SCA) type 1, 2, 3, 6 and 7. These disorders are caused by an expanded polyglutamine (polyQ) tract in otherwise unrelated proteins. They are characterized by late-onset, selective neuropathology, a pathogenic polyQ threshold and a relationship between polyQ length and disease progression. Thus, molecular models of HD and related glutamine-repeat disorders must account for these characteristic features. During the last three years, considerable effort has been invested in the development of in vitro and in vivo model systems to study the mechanisms of protein aggregation in glutamine-repeat disorders and its potential effects on disease progression and neurodegeneration. A selection of these studies is reviewed here. Furthermore, the correlation between aggregate formation and development of HD is discussed.

Animals↗
PubMed1976

An unusual family of benign "X" linked muscular dystrophy with cardiac involvement.

A family of benign X-linked muscular dystrophy is described. Two of the 3 affected members appear quite representative of Becker's dystrophy. A third shows no pseudohypertrophy, only gross atrophy, affecting proximal and distal muscles and also shows early onset contractures and electrocardiographic abnormalities and is in these ways much more representative of the variety described by Emery and Dreifuss (1966). Two of the cases have distinctly abnormal electrocardiograms with extensive and deep Q waves and abnormal R/S ratios and VI. Both these have shown progression of electrocardiographic abnormalities during a 2-year follow-up. The family is reported to document this very unusual occurrence.

Adolescent↗
PubMedDate not supplied

[Juvenile amyotrophic lateral sclerosis. Apropos of a case].

INTRODUCTION: There are scanty reports on juvenile forms of amyotrophic lateral sclerosis, specially amyotrophic lateral sclerosis and deafness, and it is known as Madras pattern of motor neurone disease. CLINICAL CASE: We describe an sporadic case of juvenile amyotrophic lateral sclerosis with deafness in a young person who started with hearing loss at 21 years old, loss of strength in upper limbs and muscular atrophy. He was seen by a neurologist when he was 25 years old, there were evident generalized fasciculation activity in proximal and distal muscles in the four limbs and the tongue, with swallowing troubles, and increased tendon reflexes in lower limbs with abnormal plantar extensor responses. All the paraclinical test were normal, except the electromyogram, showing a classical pattern of lower motor neuron disease, and the auditory brain stem response with absence of the main components of this evoked response, as expression of VIII cranial nerve damage. DISCUSSION: Patients like this one were first described in Madras (India), and the evolution of this kind of juvenile form of amyotrophic lateral sclerosis is chronically progressive and relative benign, in relation to the classical form of amyotrophic lateral sclerosis and other forms of motor neurone disease which begin in childhood, adolescence or young adulthood. CONCLUSION: Its recognition is very important in order to diminish misleading therapies in these patients.

Adult↗
PubMed1990

A disorder of axonal development, necrotizing myopathy, cardiomyopathy, and cataracts: a new familial disease.

We report severe congenital encephalopathy and profound hypotonia associated with necrotizing myopathy, cardiomyopathy, and cataracts in 3 infants, including 2 sisters. Brain scans suggested agenesis of the corpus callosum. Neuropathological findings consisted of severe atrophy of the corpus callosum (not the usual agenesis with longitudinal callosal bundles), atrophy of the white matter, and absence of pyramidal tracts in the medulla. Multiple axonal swellings were present in the white matter and in Purkinje cells. Except for the corpus subthalamicum, gray matter structures were preserved. These findings are considered to be the expression of a primary disorder of axonal development leading to a reduction in interneuronal synaptic contacts. It is suggested that the anomaly may be due to an extension of the normal phenomenon of axonal elimination, related to a primary defect of the axonal cytoskeleton. The concept of a primary axonal disorder may also apply to other, mostly familial, conditions with progressive atrophy of the cerebral white matter and corpus callosum.

Atrophy↗
PubMedDate not supplied

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone.

PURPOSE: To characterize the clinical features and perform linkage analysis of candidate loci in a large Illinois family with autosomal dominant limb-girdle muscular dystrophy (LGMD) and Paget disease of bone (PDB). METHODS: The family includes 11 affected individuals (8 M, 3 F). Clinical, biochemical and radiologic evaluations were performed to delineate clinical features of the disorder. Linkage analysis with polymorphic markers was performed for previously identified LGMD, PDB and cardiomyopathy loci. RESULTS: Onset of PDB is early, at a mean age of 35 y, with classic distribution involving the spine, pelvis, and skull. Muscle weakness and atrophy is progressive with mildly elevated to normal creatine phosphokinase levels. Muscle biopsy in the oldest male revealed vacuolated fibers, however, in others revealed nonspecific myopathy. Affected individuals die from progressive muscle weakness, and respiratory and cardiac failure in their 40s-60s. Linkage analysis excluded autosomal dominant and recessive LGMD, PDB, and cardiomyopathy loci. CONCLUSION: Autosomal dominant LGMD associated with PDB is an unusual disorder. Linkage analysis indicates a unique locus in this family.

Adult↗
PubMedDate not supplied

Probable trigeminal nerve schwannoma in a dog.

A 7-year-old male Husky dog developed atrophy of the right masseter muscle and pruritus of the right side of the face. A myogenic origin was excluded using muscular biopsy. Electrophysiologically, there was involvement of the motor and sensory fibers of the trigeminal nerve, suggesting a lesion located between the brainstem and the trigeminal ganglion. On MRI examination, a nodular mass was detected in the right caudal fossa. This mass was characterized by intense enhancement after injection of contrast medium. Because of the progressive clinical signs, electrophysiology, and MRI results, a presumptive diagnosis of a trigeminal nerve schwannoma was made. The animal's condition improved slightly with corticosteroids. The dog underwent euthanasia 3 months after initial presentation. Necropsy was not performed.

Animals↗
PubMed1976

[Congenital centronuclear myopathy. Two morphological variants in one family (author's transl)].

This report deals with a family in which the mother and her two daughters suffer from a congenital, slowly progressive neuromuscular disease. Histological, histochemical and ultrastructural observations of the mother's muscle biopsy reveal the characteristics of the centronuclear myopathy. In this case central nuclei and pericentronuclear abnormalities of muscle fibers are found in almost all fibers. Biopsies obtained of the two daughters show alterations especially of type I-fibers, which often are smaller than normal. The presence of these two forms of centronuclear myopathy in one family indicates that these may be only different morphological types of states of one illness. Additionally, other structural findings (rod bodies, core like regions) emphasize the similarities with other congenital slowly progressive myopathies (nemaline myopathy, central core disease).

Adenosine Triphosphatases↗
PubMed1990

Secondarily reduced cytochrome c oxidase activity in various neuromuscular disorders.

Decreased cytochrome c oxidase (CCO) activity was found in various neuromuscular diseases, including infantile spinal muscular atrophy (SMA) and Fukuyama type congenital muscular dystrophy (FCMD), that was thought to result from a secondarily induced mitochondrial defect. To determine whether or not the enzyme activities in the mitochondrial electron transport system can be secondarily changed, we measured the enzyme activities in denervated rat muscles. The CCO activity decreased progressively to 38-47% of the control value in 3 weeks after denervation, the NADH-cytochrome c reductase and succinate-cytochrome c reductase activities remaining unchanged, suggesting that the CCO activity may be easily reduced secondarily in various disease conditions.

Adolescent↗
PubMedDate not supplied

[Evaluating rehabilitation progress by measuring thigh circumference].

QUESTION: Thigh girth measurements have been widely used to quantify rehabilitation progress following knee surgery, but the correlation between thigh girth and other functional measures has not been investigated. This study intended to investigate whether such a correlation exists. METHODS: 15 women with bilateral osteoarthrosis of the knee participated in this study. Isokinetic knee extensor strength, thigh girth and body mass were measured immediately before, then at six weeks and six months following cementless total knee arthroplasty. RESULTS: The involved side showed clear pre-operative isokinetic knee extensor strength deficits, and slight reductions in thigh girth. Post-operatively, mean strength deficits were reduced, whereas differences in mean thigh girth became lager. Although thigh girth changes correlated well with body mass, they did not correlate with knee extensor strength. CONCLUSION: Changes in thigh girth are mainly due to changes in body mass. Thigh girth measurement is of no use for the quantification of the rehabilitation progress in total knee arthroplasty.

Aged↗
PubMed1985

Late effects of poliomyelitis. Part I: Report of five cases.

We present five case reports to illustrate the late effects of acute paralytic poliomyelitis occurring many years after recovery. We emphasize the importance of ruling out common medical causes for the symptoms and address the question of a "postpolio syndrome." The cause of progressive muscle weakness 30 to 40 years after recovery from poliomyelitis remains unknown.

Acute Disease↗
PubMed2000

Sarcopenia: current perspectives.

The development of sarcopenia is a complex multi-factorial process which begins in mid-life and accelerates after the age of 75 years. Although exercise, nutritional supplementation, hormone replacement and pro-inflammatory cytokine therapy may improve health status and reduce mortality, a better understanding of the complex interactions between these factors are needed. This review will focus on current information regarding the roles that physical activity, hormonal changes, energy intake, oxidative stress, and inflammatory processes play on the development and progression of sarcopenia.

Adult↗
PubMed1983

[Use of neck muscle in the correction of facial asymmetry. The Barron-Tessier flap].

The musculocutaneous or purely muscular flap from the platysma can be used effectively for repair of loss of substance of the skin and mucous membranes of the lower third of the face, and also for contour reconstruction of the soft tissues of the face in such difficult indications as Romberg's progressive facial hemi-atrophy. Based on the original description by Barron in 1965, Paul Tessier has widely developed and trained in the use of this procedure for the last 15 years. The operative technique is described, indications and contra-indications discussed, and long-term results and tactics to be followed for correction of facial asymmetries outlined.

Facial Asymmetry↗
PubMed1978

Course of denervation atrophy in type I and type II fibres of rat extensor digitorum longus muscle.

In the denervated extensor digitorum longus muscle of the rat type I and type II muscle fibres were differentiated histochemically and their course of atrophy was studied. Until 42 days after denervation type I and type II fibres could be identified by means of the myofibrillar ATPase reaction. Up to that time an exclusive atrophy of type II fibres was found. Type I fibres, the smallest of the normal muscle, did not change their diameters and therefore represented the largest fibres 42 days after denervation. Type II fibres of the "white" muscle portion, in which the larger IIB fibres are predominant, showed a higher rate of atrophy than those of the "red" muscle portion, in which the smaller IIA fibres are predominant: by 42 days the diameters of all type II fibres had gone down to equal values. Combined with a further progress of atrophy at later stages, there was a dedifferentiation of the histochemical properties, and the type I fibres exhibited atrophy as well. 120 days after denervation all muscle fibres were found to be highly atrophied.

Adenosine Triphosphatases↗
PubMed2005

[Pure akinesia presenting with antecollis].

We reported a 77-year-old woman having pure akinesia who presented with antecollis induced by L-threo-3, 4-dihydroxyphenylserine (L-DOPS). At the age of 70, she noticed increasing difficulty in standing up from a seat and moving. Afterward, she developed gait disturbance with difficulty in initiating walking, frozen gait, and postural instability. At 73 years of age, she came to our hospital, because she gradually fell down easily. Neurological examination disclosed mild akinesia with freezing symptom and kinésie paradoxale. No evidence of dementia, supranuclear gaze palsy, pseudobulbar palsy, rigidity, or tremor were present. As she developed akinesia, of which L-dopa therapy achieved little improvement, we clinically diagnosed as having pure akinesia. At age 74, L-DOPS was administered at a dose of 300mg per day and gradually increased up to 900mg per day, because her postural reflex was markedly disturbed and gait showed severe unsteadiness. Amelioration of frozen gait and unsteadiness were recognized, but efficacy of L-DOPS was temporal. It is well known that reported cases of pure akinesia were pathologically diagnosed as having progressive supranuclear palsy (PSP) or pallido-nigro-luysian atrophy. Therefore, the present case was suspected as having pathological changes which involved degeneration of the substantia nigra and globus pallidus. After three years of treatment with L-DOPS, at age 77, she was admitted to our hospital for abrupt onset of her dropped head. Hematological examinations were normal, cervical MRI showed no evidence of paracervical muscular atrophy, and electromyography did not demonstrate any abnormal change. In addition, her posterior cervical muscles showed abnormally high tension, so the dropped head was considered due to antecollis. After admission, antecollis disappeared rapidly following discontinuation of L-DOPS. However the mechanism of drug induced dystonia is imperfectly understood on the basis of the clinical course, L-DOPS was considered as possible cause of her antecollis. L-DOPS, artificial precursor of noradrenarine (NA), is thought to increase not only NA level in the CNS, but also inhibit release of acetylcholine. It is suggested that the antecollis of present case results from impairment of a normal dopaminergic-noradorenergic balance caused by increased NA and striatal dopamine deficiency. This is the first case of antecollis induced by L-DOPS in a pure akinesia patient, providing important information on mechanism of drug induced dystonia and indicating caution in the clinical use of L-DOPS.

Aged↗
PubMed1991

Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.

Two sisters and a first cousin presented with rigid spine and facio-scapulo-peroneal muscle atrophy. The patients belonged to a family with two first-cousin marriages. Electromyography, muscle and nerve biopsy showed neurogenic muscle atrophy without peripheral nerve involvement. Follow up did not show progression of the disease. This is the first observation of an association of neurogenic facio-scapulo-peroneal and rigid spine syndrome. The double first-cousin marriage suggests autosomal recessive inheritance.

Adolescent↗
PubMed1993

Case report: left ventricular apical hypertrophy in progressive limb-girdle muscular dystrophy.

Cardiac involvement is uncommon in patients with limb-girdle muscular dystrophy. This report describes a patient in whom concentric hypertrophy localized to the apical left ventricle was revealed during a long clinical course of skeletal muscular dystrophy, with evolving electrocardiographic changes also compatible with apical hypertrophic cardiomyopathy. Endomyocardial biopsy revealed similar histologic changes in the skeletal muscle biopsy specimen, characterized by muscle fiber atrophy and hypertrophy with a mild degree of interstitial fibrosis. The pathogenesis of cardiac hypertrophy in this case is unclear. However, the pathologic findings suggest that the myocardium may be involved in the same dystrophic process as the skeletal muscles.

Cardiomyopathy, Hypertrophic↗
PubMed1978

A clinical study of chronic childhood spinal muscular atrophy. A review of 141 cases.

The case histories and clinical details of 141 children (67 males and 74 females) with chronic childhood spinal muscular atrophy (SMA) have been reviewed. Hundred of these children were alive at the time of the study. The cases comprise a consecutive unselected series of all with this disease who presented to two large English neurological centres over a 10-year tracing period. Chronic childhood SMA is defined here as a progressive disease of anterior horn cells with initial proximal selectivity, which does not of itself cause death before 18 months of age. Clinical signs are first manifest between birth and 8 years of age, but in 95% before 3 years. Cumulative frequency tables for motor skills are presented; 46% of children never walked, even with orthopaedic aids; 37.6% were able to walk unaided at some stage. No child was able to run after 12 years of age. Late-presenting sporadic cases retain motor skills longer than do familial cases. A sex influence on the clinical course of the disease has been demonstrated, males being more severely affected. Cumulative frequency curves for age-at-onset and age-at-presentation have been compiled. A sib of an affected index case, still clinically normal at 2 years of age, has passed 90 percent of his risk period; the use of such cumulative frequency curves for studies of carrier-frequency and incidence is discussed. The median age at death for this disease exceeds 10 years. The range encompassed by the clinical spectrum is discussed.

Adolescent↗