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PubMed1973

The syndrome of myosclerosis.

Three cases are described presenting with progressive contractures in whom the muscles felt firm and `woody' and a clinical diagnosis of myosclerosis was made in each case. A patient and his young sister were shown to be suffering from spinal muscular atrophy with superimposed, excessive proliferative activity of fibroblasts, and in these cases a beneficial effect of penicillamine was demonstrated. The third case with a clinical picture of myosclerosis was found on muscle biopsy to have extensive inflammatory infiltration of the connective tissue, and responded temporarily at least to high doses of corticosteroids. It is emphasized that several different disease entities can give rise to this clinical picture.

Adult↗
PubMed1995

Genetic heterogeneity of hereditary motor and sensory neuropathy type VI.

Charcot-Marie-Tooth disease comprises a heterogeneous group of neurologic disorders that shape peripheral motor and sensory neuropathy. A classification of these disorders was proposed in 1975, defining seven types of hereditary motor and sensory neuropathy. Clinical features of hereditary motor and sensory neuropathy type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to blindness due to optic atrophy. Hereditary motor and sensory neuropathy type VI was first reported in 1879 by Vizioli, who described a kinship in which a father and two sons presented with peroneal muscular atrophy in association with optic atrophy. Since then, at least nine similar cases have been reported: three sporadic cases, two pairs of siblings who were offspring of consanguineous parents, and one pair of siblings who were offspring of unrelated parents suggesting autosomal recessive inheritance. Vertical transmission has been reported only by Vizioli. We present a father and two offspring (one boy and one girl) with the above-mentioned characteristic features of hereditary motor and sensory neuropathy type VI. Vizioli's kinship and either an autosomal recessive or autosomal dominant pattern of inheritance.

Child, Preschool↗
PubMed1995

Apoptosis in the nervous system: morphological features, methods, pathology, and prevention.

For nearly 70 years apoptosis has been known to be a form of cell death distinct from necrosis as well as an important regressive event during the normal development of the nervous system. For example, in the chick, mouse, rat and human approximately 50% of postmitotic neurons die naturally during embryonic or fetal development. It is generally accepted that neurons die during this period by apoptosis. After the period of naturally occurring cell death, the surviving neurons may undergo degeneration and death due to injury or disease later either during development or in adulthood. Recently, apoptosis has been suggested to be involved in the abnormal neuronal death that occurs following axonal injury or in neurodegenerative diseases such as amyotrophic lateral sclerosis and Alzheimer's. Although little is known about the etiology of these diseases, progress is steadily being made toward understanding their underlying mechanisms. For diseases of spinal motoneurons, during the past two years gene mutations have been identified in patients with familial amyotrophic lateral sclerosis or spinal muscular atrophy. Furthermore, a number of in vitro, in vivo, and mutant animal models have been developed in order to study the factors which control motoneuron survival and/or death. Here, we review the morphological differences between necrotic and apoptotic cell death and some of the methods used to differentiate the two pathways. We also discuss motoneuron cell death during development, following injury and in disease, and its prevention by different agents, including neurotrophic factors.

Animals↗
PubMed1992

[The first case of infantile type neuronal ceroid-lipofuscinosis in Japan].

We reported the first case of typical infantile-type neuronal ceroid-lipofuscinosis (INCL) in Japan. The patient was a 1-year-old girl presenting with rapidly progressive psychomotor deterioration and blindness. Muscular hypotonia, microcephaly and myoclonic jerks became marked with the progression of her disease. Diminution in amplitude of EEG, VEP and ERG was prominent in the initial stage, but ABR was normal. MRI showed progressive brain atrophy. Electron microscopic examination of the biopsied skin revealed granular matrix, the specific inclusion bodies, in the epithelial cell of sweet glands. Many sea-blue histiocytes were demonstrated in her bone marrow samples. INCL is a common progressive encephalopathy in the Scandinavian countries, but a typical case had not yet been fully reported in Japan. This prompted us to report our case. Future reports are need for the study of INCL in Japan.

Biopsy↗
PubMed1991

Selective type II muscle fiber hypertrophy in severe infantile spinal muscular atrophy.

The diagnostic muscle biopsy finding in severe infantile spinal muscular atrophy (Werdnig-Hoffmann disease, SMA type 1) is considered to be large-group atrophy with isolated clusters of hypertrophic type I myofibers. We present a unique case of severe infantile spinal muscular atrophy with selective hypertrophy of type II myofibers. A male infant presented at age 2 months with breathing difficulties and by age 4 months was hypotonic and weak. Electromyography revealed denervation in all extremity muscles, and nerve conduction velocities were normal but with small compound muscle action potentials. Quadriceps muscle biopsy revealed many hypertrophied type II myofibers (myofibers with a mean least diameter of 25.4 microns). In contrast, the largest type I myofibers were 20 microns in least diameter (mean diameter, 14.9 microns), and there was a normal-size population of type II fibers (mean diameter, 15.7 microns). In addition, sheets of atrophic type I and type II fibers averaged 2.0 microns in least diameter. Sural nerve biopsy was normal. Breathing difficulties progressed, with death ensuing at age 5 1/2 months. Autopsy revealed atrophy of ventral spinal roots with normal dorsal roots. There was loss of anterior horn cells, while remnant neurons were reduced in size. No other pathologic changes were identified. This case indicates that in severe infantile spinal muscular atrophy, relative sparing of the motor units with type II myofibers may occur.

Biopsy↗
PubMed1982

[Proximal spinal muscular atrophies].

The author observed 24 patients with proximal spinal muscular atrophies (PSMA) 15 of whom were suffering from Kugelberg-Welander's disease, and 9 from the intermediate form. In addition to the conventional neurological examinations carried out in all the patients, 11 patients were also examined electroneuromyographically. A genetic analysis of affected families was performed. The analysis showed that the disease forms being studied were inherited according to the autosomo-recessive type: this was in agreement with literary data. The age of the disease onset, the clinical manifestations of the disease, particularly, the character of the atrophies and their prevalent localization; the course and the degree of the disease progress, and the prognosis were also analyzed. The author discusses the character of the electroneuromyograms that showed a typical picture of motoneuron affection, while the conductivity of motor nerves remained normal, though showed signs of an increase of motor unit parameters with a decrease of the number of voluntarily-activated units, i.e. a diminution of mobilization. The degree of the EMG amplitude lowering during voluntary muscular contractions correlated with the disease gravity. The speed of the impulse conduction was normal. The data presented may be of a certain significance for medico-genetic consultations.

Diagnosis, Differential↗
PubMed1989

Assessment and management of pes cavus in Charcot-Marie-tooth disease.

The sequential approach to evaluating the cavus foot is integrated with a description and assessment of the various treatment options. Decision making in the treatment of these cases is complicated by the progressive neurologic condition that underlies many of these deformities. An effort is made to recommend the most appropriate surgical intervention based on the nature of the deformity and its rigidity. Although these principles apply to all cavus feet, the deformity in Charcot-Marie-Tooth disease is the most difficult to treat and the most prone to recurrence because of the progressive nature of the muscular imbalance causing it.

Charcot-Marie-Tooth Disease↗
PubMed1993

[Two cases of MERRF (myoclonus epilepsy associated with ragged red fibers) showing different clinical features in the same family].

A 73-year-old woman (patient 1) developed progressive mental deterioration at age 63, and seizures at age 70. On examination, she showed severe dementia, tonic clonic convulsion, hypotonia and muscular wasting. There was neither myoclonus nor cerebellar ataxia. Brain CT revealed a low density area in the right occipital lobe. A 44-year-old man (son of the patient 1) developed unsteady gait at age 15, muscle twitching at age 18 and then noticed speech disturbance at age 35. He had no history of convulsive seizure. Neurological examination showed cerebellar ataxia, myoclonus in the extremities and mild muscular weakness. His intelligence was normal. Brain CT showed moderate atrophy of the pons and the cerebellum. Both cases showed the same mitochondrial DNA mutation as reported previously in patients with MERRF. However, the clinical features, the age of onset and the brain CT findings were totally different between these 2 cases. In the progress of mitochondrial genetic analysis, atypical forms in MERRF like the patient 1 would increase in number, and the wide variation of clinical symptoms should be considered.

Adult↗
PubMed1975

"Epi-" and intramedullary neurilemmoma of the spinal cord with denervation atrophy in the related skeletal muscles.

The autopsy of a 68-year-old male who died of cardiac infarction revealed an ep - and intramedullary neurilemmoma of the spinal cord as an associated finding half a year prior to death. The patient had suffered from progressive weakness and sensory disturbances of the lower limbs together with muscular wasting for 6 months. Repeated neurological examinations had led to the diagnosis of an intraspinal space occupation which, however, could not be substantiated by myelography because of its surprisingly small size. The Schwann cell proliferation originated from the adventitia of the epi- and intramedullary vessels of the conus medullaris. The main tumor mass was epi-medullary and extended into the medullary parenchyma via the penetrating vessels forming intramedullary nodules. The special findings in the present case seem to support the hypothesis that intramedullary neurilemmomas originate from the perivascular nerve endings.

Aged↗
PubMed2005

Hemosiderin deposits in chronic graft-vs.-host disease related myopathy.

Chronic graft-vs.-host disease (cGVHD) occurs in 20-50% of patients who survive for at least 100 d after allogeneic stem cell transplantation (SCT). cGVHD includes scleroderma-like skin changes, chronic cholangitis, obstructive lung disease and general wasting syndrome. Polymyositis or myopathy are rare manifestations of cGVHD with approximately 40 reported cases. Polymyositis accompanied by hemosiderin deposits in cGVHD has been reported only once, and there are no reports on lipofuscin deposits in skeletal muscle cells in cGVHD. We report here on a 56-yr-old male who underwent allogeneic SCT in 1999 for osteomyelofibrosis and progressive hematopoietic insufficiency. In February 2004, the patient was hospitalized for progressive muscular weakness with loss of the ability to walk. Laboratory tests demonstrated normal values for serum creatine kinase, aldolase and lactic dehydrogenase; the ferritin level was highly elevated. The femoral muscle biopsy showed mostly perifascicular atrophy as well as numerous subsarcolemmal hemosiderin and lipofuscin deposits. Intravenous administration of the chelating agent deferoxamine was ineffective. Three weeks later the patient died of aspiration pneumonia. Interestingly, autopsy disclosed moderate hemosiderin deposits in the liver, the organ usually involved in hemosiderosis.

Biopsy↗
PubMed2001

[Multifocal motor neuropathy. Immediate response to intravenous immunoglobulin].

Multifocal motor neuropathy, a rare insidious immune-mediated disorder, features muscular weakness and atrophy, as well as areflexia, due to nerve conduction block and is often associated with the presence of anti-GM1 antibody. We report a patient with a nine-year history of progressive upper limb weakness, misdiagnosed as amyotrophic lateral sclerosis, who responded within hours to intravenous immunoglobulin treatment with full recovery of muscle strength. This case highlights the need to search for conduction block in patients with lower motor neuron involvement.

Amyotrophic Lateral Sclerosis↗
PubMed1980

Foot surgery in Charcot-Marie-Tooth disease.

The preliminary study dealing with surgical treatment of foot deformity associated with CMT shows that the peroneal muscle may be functional in CMT but not measurable because of the deformity that it may have helped to create. The transfer of peroneus longus is designed to decrease deforming forces in conjunction with the Jones suspension that elevates the first ray. It assists the weak anterior muscle group. This, in addition to other surgical procedures as referenced, may be of help in correcting the foot deformity of CMT. Prognosis can be affected by the progression of the disease.

Adolescent↗
PubMed1991

Wohlfart-Kugelberg-Welander syndrome: serum creatine kinase and functional outcome.

The medical records of 31 patients (19 male and 12 female) with clinical and electrophysiologic features of Wohlfart-Kugelberg-Welander syndrome were reviewed. The reported age at onset ranged from less than one year to 46 years, and the age at diagnosis ranged from three to 66 years. Proximal muscle weakness, especially of the lower extremities, and muscular atrophy were the predominant clinical features. Elevated serum creatine kinase levels were noted in four female and 12 male patients, and the degree of elevation was higher in the male patients (up to 32 times the upper limit of normal) than in the female patients. On initial evaluation, two patients were wheelchair-bound, whereas the others were ambulatory. On follow-up evaluation three to 32 years later (mean, 15.5 years), 11 patients used wheelchairs, although only three were wheelchair-bound. The disease followed a steady, slowly progressive course. The outcome of ambulatory status did not correlate with the initial creatine kinase determination.

Activities of Daily Living↗
PubMed1993

[Juvenile muscular atrophy of the distal upper limb--three decades of description and it's treatment].

This disorder has been separated clinically from motor neuron disease. Its clinical characteristics were clarified through our reports in 1957-1972. Muscular weakness and atrophy began insidiously in the growing generation, mostly in males, and were limited to the distal part of a unilateral upper limb or unilaterally-predominated upper limbs, showing a peculiar "oblique atrophy". The symptoms came to a halt spontaneously after a progressive course for several years. electromyography showed neurogenic changes in affected muscles innervated by the lower cervical segments, as well as in the corresponding muscles on a clinically unaffected side. The responsible lesion and pathogenesis had been unknown for decades until we reported pathological findings of the first autopsy case in 1987. The lesion was addressed to the bilateral anterior horns with a side-preponderance from the cord segment C5 to T1, most evident at C7 and C8, where we found necrotic changes presumably due to a local circulatory failure (ischemic myelopathy). On the other hand, we performed a radiological examination (myelography) using computerized tomography and magnetic resonance imagings, and found a dynamic compression of the spinal cord. In a posture of neck flexion, the posterior wall of the dural canal shifted anteriorly leaving the vertebral arch around the sixth cervical vertebrae, resulting in an antero-posterior compression of the cord segment from C7 to C8. The degree of the anterior shift was small in patients with longer duration, and had inverse correlation to the years from onset. In 1882 he was appointed as the first Professor of Neurology, under the strong support of Gambetta, Prime Minister of the third republican cabinet. Ackerknecth said that the Salpêtrière has became Medical Institution only by Revolution. An we remember that through the Enlightment of France, the spirit of "Philanthropy" was flowing concretely at the Salpêtrière, as seen in the figures of Pinel or Esquirol.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1997

Functional properties of motor units in motor neuron diseases and neuropathies.

The relationship between the size of single motor unit (MU) action potentials and their twitch properties was estimated in patients with spinal muscular atrophy (SMA, n = 5) and amyotrophic lateral sclerosis (ALS, n = 10), as well as in patients with peripheral nerve lesions (PNL, n = 9). The data obtained from these groups were compared to normal controls (n = 8). In controls, the single MU twitch force was highly correlated to the corresponding EMG potential size in terms of macro EMG area. An enlargement of MUs, due to collateral sprouting and reflected by increased potential size and twitch force, was found in regenerating PNL and in slowly progressing SMA. Both parameters were highly correlated which indicates a high functional quality of compensating mechanisms. However, in rapidly progressing forms of amyotrophic lateral sclerosis (ALS) this correlation is poor and reflects a disturbance of the contractile system. Contraction times and half relaxation times were not correlated in the different groups.

Action Potentials↗