The weight stream in Charcot disease of joints; the cure of perforating ulcer of the foot.
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Amyotrophic Lateral Sclerosis↗
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Results for “PROGRESSIVE MUSCULAR ATROPHY”
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[Acute cervical epidural hematoma as a complication of anterior cervical C5-C6 diskectomy. A case report].
A 32 year-old woman with cervico-brachial pain and progressive neurological disorders was admitted to the Department and Clinic of Neurosurgery and Neurotraumatology of the K. Marcinkowski University of Medical Sciences in Poznań. Neurological examination revealed right hemiparesis with muscular atrophy in the right upper limb, progressing in the past 3 months. MRI demonstrated relatively large herniations of C4-C5 and C5-C6 discs with spinal and nerve compressions. A surgery was carried out. Discectomy of C4-C5 and C5-C6 discs was performed using the anterior vertebral approach. After the removal of C4-C5 and C5-C6 discs and C5 vertebral body a fragment of the iliac bone strut was wedged between C4 and C6 vertebral bodies. The bone graft was fixed to C4 and C6 vertebral bodies with a titanium plate. Within 6 hours after the surgery the patient developed a complete loss of motor functions in the upper and lower limbs. MRI scan of the cervical spine showed a huge anterior epidural hematoma compressing the spinal cord. An emergency re-operation and removal of the hematoma was performed by the anterior approach. A complete neurological recovery followed during the first 24 postoperative hours.
Acute Disease↗
[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) associated with hypothalamo-pituitary hypofunction--a case report].
A case of 25-year-old woman with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) was reported. She had short stature, episodic vomiting with headache, several episodes with homonymous hemianopsia, progressive intellectual decline, generalized convulsion, muscular atrophy, sensory disturbance on the left side of the body, and primary amenorrhea. Lactate, pyruvate and the lactate to pyruvate ratio were elevated in the serum and cerebrospinal fluid. Muscle biopsy revealed ragged-red fibers. On electron microscopy there were subsarcolemmal aggregations of abnormal mitochondria with proliferation of crista and inclusions. Activities of the respiratory chain enzymes of the muscle mitochondria were normal. She showed a failure of GH response to arginine and levodopa and delayed response of serum GH to growth hormone releasing factor (GRF). She also showed decreased gonadotropin levels and delayed response of the hormone to LH-RH. In this case, a dysfunction of the hypothalamo-pituitary axis may be related to the short stature and primary amenorrhea. It is suggested that the hypothalamo-pituitary hypofunction may be one of the characteristic features in MELAS.
Acidosis, Lactic↗
[Pulmonary function tests at different stages of toxic oil syndrome].
The toxic oil syndrome is a new multisystemic disease, caused by ingestion of adulterated olive oil; this oil had a part of rapeseed oil, which was denatured with aniline for industrial use, and then re-refined. It is estimated that 20,000 people were more or less affected, the mortality being 1.7%. There is no clear pathogenetic mechanism, but the most probable is the generation of free radicals, caused by anilides. The clinical picture began with fever, acute interstitial pneumonia, pruritus, exanthems, myalgias and eosinophilia. The main pathological findings were generalized endothelial lesions, septal oedema, mild inflammatory mononuclear infiltrates and hydropic degeneration of type I and II pneumocytes with desquamation of type I. The pneumonic syndrome had a favourable evolution, except in 5% of the patients who went into acute respiratory distress and suffered an important mortality. In 10% of the patients, a moderate hypoxaemia remained with normal chest film; in these cases, a transbronchial biopsy showed more severe endothelial lesions and, in some of these patients, it was possible to find clinical signs of pulmonary hypertension, which was moderate and did not improve with oxygen or vasoactive agents. The neurological symptomatology was progressive, leading to very severe muscular atrophy and, in some cases, to alveolar hypoventilation. The neuromyopathy, as the other clinical manifestations, improved slowly during the following months. A year after the onset, a pulmonary restriction with a low transfer factor of CO remained, and some patients had residual neuromyopathy and severe scleroderma-like lesions of the skin. (ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy.
Spinal muscular atrophy is an autosomal recessive disorder characterized by the progressive loss or degeneration of the motor neurons. To investigate the expression of survival motor neuron (SMN), the spinal muscular atrophy-determining gene, and its relationship with the pathogenesis of the disease, we analyzed by means of in situ hybridization the location of SMN mRNA in fetal, newborn, infant, and adult human central nervous system tissues. The large motor neurons of the spinal cord are the main cells that express SMN together with the neurons of the medulla oblongata, the pyramidal cells of the cortex, and the Purkinje cells of the cerebellum. Some sensory neurons from the posterior horn and dorsal root ganglia express SMN to a lesser degree. Furthermore, strong SMN expression is detected in the ependymal cells of the central canal. The expression is present in the spinal cord at 8 weeks of fetal life throughout postnatal and adult life. The sharp expression of SMN in the motor neurons of the human spinal cord, the target cells in spinal muscular atrophy, suggests that this gene is implicated in neuronal development and in the pathogenesis of the disease. The location of the SMN gene expression in other neuronal structures not clearly or directly associated with clinical manifestations or pathological findings of spinal muscular atrophy may indicate a varying sensitivity to the absence or dysfunction of the SMN gene in motor neurons.
Adult↗
Cortical atrophy and progressive amyotrophy as sequels of epidemic encephalitis.
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Atrophy↗
Lower motor neuron disease in the Griffon Briquet Vendéen dog.
Two 2-month-old Griffon Briquet Vendéen pups from the same litter were evaluated for progressive weakness and hind limb paresis. The paraparesis progressed rapidly to extensor paralysis with subsequent involvement of the forelimbs with flexor paralysis. The appendicular muscles of all four limbs became progressively atrophied. Lesions included severe loss of neurons in the ventral horns of the spinal cord, Wallerian degeneration of ventral spinal roots, and peripheral nerve and neurogenic appendicular muscular atrophy. The clinical and morphological findings were consistent with a progressive lower motor neuron disease.
Animals↗
[Cervical root avulsion presenting proximal segmental muscular atrophy of unilateral upper extremity].
A 56-year-old woman noticed non-progressive weakness in the proximal part of the right upper extremity from her childhood. At the age of 37 years, she was diagnosed as "spinal muscular atrophy" by an orthopedic surgeon. At the age of 56, neurological examinations revealed muscular atrophy and weakness confined to the right deltoid, biceps brachii and brachioradialis together with minor sensory disturbance in the lateral side of the right shoulder and forearm without pyramidal sign in the lower extremities. The neurological features of this case differed from those of juvenile type of distal and segmental muscular atrophy of upper extremities in distribution of muscular atrophy, and simulated those of cervical spondylotic amyotrophy. Myelography demonstrated root avulsion of the right C5 and C6 roots. CT myelography revealed traumatic meningocele. Therefore a clinical diagnosis of cervical root avulsion resulting from unrecognized birth injury was made. The reason of motor dominant pictures of this case may be vulnerability of the anterior nerve roots to traction injury.
Arm↗
Association of lower motor neuron disorders with fasciculation, neuromyotonia and myoclonus.
Fasciculations may be generated at any point on a hyperexcitable lower motor neuron. Physiological ('benign') fasciculations often begin suddenly and persist for years without development of muscular wasting or weakness. Fasciculations may be a sign of degeneration of lower motor neurons in which case they may be associated with muscle cramps and neuromyotonia. Both sensory and motor axons are overactive in neuromyotonia, the symptoms of which are relieved by administration of anticonvulsants such as carbamazepine. Spinal muscular atrophy is a feature in some cases of progressive myoclonic epilepsy of the systems degeneration type that may be overlooked because muscular wasting is overshadowed by the dramatic appearance of action myoclonus.
Brain↗
[Infantile facioscapulohumeral muscular dystrophy].
The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and feet were noted. By 15 years the patient demonstrated a noticeable progress of motor disorders: she was unable to stand up from the chair, experienced difficulties in walking along the ward, and had a waddle gait. The given symptom-complex corresponds with the infantile variety of facial scapulohumeral myodystrophy.
Adolescent↗
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy.
Two affected siblings with infantile spinal muscular atrophy (SMA I) presented with generalized muscular hypotonia, which progressed to early death. Quadriceps muscle biopsy did not show the typical neurogenic pattern of spinal muscular atrophy. The histochemical fiber type determination revealed a predominance of type II fibers without type I hypertrophy, an unprecedented finding in spinal muscular atrophy. Sural nerve biopsy exhibited findings typical for axonal neuropathy. In one patient, electrical stimulation of peripheral nerves showed an inexcitability of motor and sensory nerves. Genetic studies revealed homozygous deletions of the telomeric survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene in the affected children. This is the second case report of molecular genetically proven spinal muscular atrophy associated with axonal neuropathy. We conclude atypical findings on muscle biopsy and evidence of axonal neuropathy are compatible with the diagnosis of infantile spinal muscular atrophy.
Adult↗
Peripheral motor and sensory neuropathy of early childhood, simulating Werdnig-Hoffmann disease.
A five-year-old girl developed neurogenic muscular atrophy during infancy. On the basis of clinical findings and a muscle biopsy study a diagnosis of infantile spinal muscular atrophy, benign type II, was entertained. As the disease progressed, involvement of sensory pathways was detected by electrophysiological studies. Examination of a sural nerve specimen suggested a chronic polyneuropathy rather than spinal muscular atrophy. These findings were confirmed at autopsy by demonstrating severe loss of myelinated axons in ventral and dorsal spinal roots, peripheral nerves and dorsal columns of the spinal cord. In addition, islands of astroglial fibers were found in ventral and dorsal spinal roots, regarded as a secondary reaction to the breakdown of myelinated axons. This unusual scarring process seems to result from nerve fiber loss during the perinatal period, since radicular glial scar tissue is not known to occur in the spinal muscular atrophies of later onset. Examination of the sensory nervous system in patients with Werdnig-Hoffmann disease appears mandatory to clarify the precise disease entity leading to infantile neurogenic muscular atrophy.
Child, Preschool↗
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.
Scapuloperoneal (SP) syndromes are heterogeneous neuromuscular disorders which are characterized by weakness in the distribution of shoulder girdle and peroneal muscles. SP syndromes can resemble facioscapulohumeral muscular dystrophy (FSH) due to scapular weakness or Charcot-Marie-Tooth disease (CMT) due to atrophy of peroneal muscles. Both neurogenic and myopathic SP syndromes have been described. Locus for the myopathic form of SP syndrome (scapuloperoneal muscular dystrophy, SPMD) has recently been assigned to chromosome 12q. We previously described a large New England kindred exhibiting an autosomal dominant neurogenic SP syndrome (scapuloperoneal spinal muscular atrophy, SPSMA). Disease expression was more severe and progressive in successive generations, which suggested genetic anticipation. We performed genetic linkage analysis of this family with microsatellite markers and excluded the loci for FSH, CMT, SPMD and SMA (spinal muscular atrophy) in our family. Linkage in our SPSMA family (lod score > 3) was established to seven microsatellite markers that map to chromosome 12q24.1-q24.31. The highest lod score with two-point linkage analysis was 6.67 (theta = 0.00) with marker D12S353. Multipoint analysis gave maximum lod scores of 7.38 between D12S354 and D12S79, and also 7.38 between D12S369 and NOS1 (neuronal nitric oxide synthase). The gene for SPSMA lies within the 19 cM interval between D12S338 and D12S366. This report establishes a locus for the neurogenic form of SP syndrome approximately 20 cM telomeric to the one described for the myopathic form of SP syndrome.
Chromosome Mapping↗
[A case of severe involvement of the motor neuron system accompanied with cerebellar ataxia].
Here we report a sporadic case of severe involvement of the motor neuron system accompanied with cerebellar ataxia. A 55-year-old Japanese woman was admitted to our hospital because of unstable gait and clumsiness of hands. Since she had prominent ataxia, she was initially diagnosed as late onset cortical cerebellar atrophy (LCCA). However, mild muscular weakness and atrophy were pointed out. Weakness in extremities progressed slowly and she became unable to walk in two years. On the second admission, in addition to cerebellar ataxia, she had moderate to severe muscular weakness and atrophy with fasciculation in extremities. Although she had no sensory impairment, micturitional disturbance nor orthostatic hypotension, she had impaired skin sweating response. MRI imaging revealed moderate cerebellar and brain stem atrophy. Neurophysiological examination revealed upper and lower motor neuron damage. Beta-D-N acetylglucosaminidase activity was normal and SCA1, DRPLA and Machado-Joseph disease were excluded by DNA studies. Combination of motor neuron disease and cerebellar degeneration has been very rare. Only two cases similar to our case were reported before. Our patient had anti GM1-ganglioside antibody in her serum, suggesting that motor neuron disease and cerebellar degeneration may occur with the same pathophysiological mechanism.
Cerebellar Ataxia↗
Muscle fatigue in spinal muscular atrophy.
We previously reported that patients with spinal muscular atrophy do not lose muscle strength over time as measured quantitatively. However, we noted that many patients with spinal muscular atrophy suffer from what they call fatigue. We wondered if we could measure fatigue during a single maximal voluntary contraction, whether fatigue might increase with time, independent of muscle strength, and whether increasing fatigue might correlate with loss of function in some patients. We measured fatigue during a single maximal voluntary contraction in a cohort of patients having spinal muscular atrophy using quantitative strength testing. We included only patients with spinal muscular atrophy aged 5 years or older, so they could follow instructions regarding muscle contraction, and who were followed for at least 2 years. Seventy-six children with spinal muscular atrophy and 24 untrained individuals, aged 5 to 57 years (mean, 16.8 years), were studied. There was no discernible abnormal fatigue in patients with spinal muscular atrophy compared to untrained controls using our methodology. Thus, spinal muscular atrophy may not be associated with fatiguability. Moreover, spinal muscular atrophy does not appear to cause progressive muscle fatigue with age or loss of function. It is possible that fatigue was undetectable by our methods. An alternative explanation is that what patients describe as fatigue may be caused by factors outside the neuromuscular system. Such factors may include chronic respiratory insufficiency with hypoventilation and carbon dioxide retention as well as chronic malnutrition and negative nitrogen balance.
Adolescent↗
[Late complications of poliomyelitis].
We examined 73 31-55-year-old postpoliomyelitis patients who had paralytic form of the disease before the age of 11. It was found that progression of neuro-muscular signs (pareses, atrophies, myalgias), typical for postpoliomyelitis muscular atrophy (PMA) emerged in 43 patients. Classical statistical analysis of clinical and electromyographical data and special statistical method of extreme parameter grouping confirmed PMA only in 8 out of the above 43; 3 forms of postpoliomyelitis syndrome were recognised.
Adult↗
[Unilateral scapulohumeral amyotrophy. Contribution of imaging].
A case of right scapulohumeral muscular atrophy stable after a 6 month progressive course is reported. Cervical metrizamide CT and MRI showed a flattened right cervical spinal cord regarded as a segmental atrophy. The case could belong to the Kaeser type of sporadic chronic spinal amyotrophy, or perhaps corresponds to a benign focal amyotrophy.
Adult↗
Distal spinal muscular atrophy.
Spinal muscular atrophies (SMA) are clinically heterogenous group of motor system disorders characterised by progressive pure lower motor neuron involvement. The distal form of SMA is an extremely rare disorder, which presents in the adults and has a relatively slow progression with almost no effect on the patients' life-span. Differential diagnosis of this syndrome include other forms of neuromuscular disorders with peroneal muscular atrophy like hereditary motor sensory neuropathy (HMSN) and distal myopathies, which need exclusion before confirming this rare entity. We present a young male with this disorder and briefly discuss the theoretical aspects.
Adult↗