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Werdnig-Hoffman Disease (WHD) is a rare type of spinal muscular atrophy which causes progressive deterioration of the lower motor neurons of the spinal cord and the brainstem. To our knowledge we report the first case of neurogenic bladder documented on urodynamic studies of a patient with WHD.
Muscular dystrophies comprise an important group of inherited disorders of man. Although the disease has been studied extensively, little is known about the underlying primary pathomechanisms. Consequently, treatment of patients is difficult and prognosis is poor. An animal model of muscular dystrophy is a useful research tool for approaching the basic problems of pathogenesis in muscle diseases. An inherited progressive muscular dystrophy of mink which resembles the amyotonic forms of human muscular dystrophy is currently under study. Clinically, the earliest sign is progressive muscular weakness and atrophy. Muscle enzyme activities in serum are usually elevated to pathologic levels. Urinary creatine/creatinine ratio is elevated. Pathologic changes are limited to skeletal muscle and are typical of those seen in amyotonic forms of human muscular dystrophy. These changes include variation in diameter size of muscle fibers, centralized nuclei, floccular and hyaline degeneration of scattered muscle fibers, increase in connective tissue in endomysial and perimysial areas, and regenerative attempts. Both type I and type II muscle fibers are involved in the disease process. Genetic studies indicate an autosomal recessive mode of inheritance. Although the primary defect in muscular dystrophy is traditionally thought to reside in skeletal muscle, recent studies have produced theories of primary involvement of other tissues and organ systems. These theories are presented and relationships to the traditional theory are discussed.
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Pseudoaneurysm formation as a complication of routine blood collection was diagnosed in a monkey. Damage to the femoral artery resulted in hematoma formation with secondary organization, encapsulation, and vascular communication. Progressive lameness and muscular atrophy were the primary clinical signs. Surgical correction of the artery defect helped resolve the monkey's lameness and muscle atrophy.
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This paper reports the first Austrian case of infantile nemaline myopathy in a girl aged 19 years, presenting with congenital skeletal dysplasia, reduced body weight and slowly progressive limb girdle muscular atrophy, myopathic face and difficulty in swallowing. Electromyography revealed a combination of myopathic and neurogenic lesions, while electron microscopy of a muscle biopsy established the diagnosis. The patient's mother and two elder brothers showed no clinical features of the disease, but neurophysiological abnormalities were present, indicating an asymptomatic form of illness. The aetiology and pathogenesis of nemaline myopathy are unknown, but neurogenic factors cannot be excluded.
The genetical forms of hypertrophic neuropathies, inherited either as recessive or autosomal dominant trait, are classified, according to Dyck (1975), as HMSN type I, III, and IV. Sporadic cases are also reported. We studied three patients, one with autosomal recessive inheritance, and two without family history, who had the following common features: --onset of symptoms before the age to two years; --slowly progressive course; --peroneal muscular atrophy with absent tendon reflexes; --reduction of MCV and SCV; --decreased number of myelinated fibers; --schwannian cell hyperplasia, with onion bulb complexes formation; --absence of aspects of hypomyelination; --increased number of collagen pockets and denervated Schwann-Remak cells or processes. On light microscopy, multilamellated onion bulbs of large size were found in a very high percentage in case 1, while there were either simple in type or in a lower percentage in case 2. In the third, case, onion bulbs were recognized only on electron microscopy. It is known that in the various kinships affected with type I of HMSN, the pathological changes of peripheral nerves differ greatly. Therefore, despite early onset of symptoms and varying degree of severity of nerve changes, all three cases have been classified within the group of HMSN type I. The different severity of nerve damage may suggest the possibility of a genetical heterogeneity in this disorder.
Charcot (1825-1893) brought new vigor to the clinicopathologic tradition of the Paris school by adding to macroscopic anatomy the new dimension of histology--still marginal in France when, in 1862, he came to the Salpêtrière and undertook the exploration of its enormous resources in pathology. Vulpian was the initiator. Cornil, Charcot's intern in 1863, taught him the techniques which he had acquired from Virchow's laboratory. Within a decade, Charcot established the bases for a neurological classification which have endured. He described multiple sclerosis. He attributed progressive and acute muscular atrophy to lesions of anterior horns of the spinal cord; locomotor ataxia to the posterior horn and spinal root. He gathered together the data leading to the description of amyotrophic lateral sclerosis. In 1872 (in fact 1873) he replaced Vulpian in the chair of pathological anatomy which he held for ten years. His lessons in pathology of the viscera; kidney, liver, and bile ducts, lung, make up several volumes of his Completes Works. In the study of Localizations of diseases of the spinal cord (1873-74), he specified the anatomy and physiology of the cord. In 1875, and then in 1880, the Cerebral localizations of motor activities marked a decisive step. By 1882, when the clinical chair for the diseases of the nervous system was inaugurated, Charcot was already substantially involved in the study of hysteria. He approached that subject from a perspective that remained loyal to pathology setting up by analogy an ongoing correspondence in terms of anatomical sites, between the "dynamic lesion" assumed to be responsible for manifestations of the neurosis, and organic lesions which produced the same symptoms.
A 58-year-old man developed slowly progressive weakness of both legs due to the adult form of proximal spinal muscular atrophy.
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Coenzyme Q10 (CoQ) was measured in serum and muscle of 17 patients with ophthalmoplegia plus (including 5 patients with Kearns-Sayre syndrome), in muscle of 9 patients with neurogenic atrophies, 5 patients with myositis, and 5 patients with progressive muscular dystrophies (including 1 patient with oculopharyngeal dystrophy), and in serum and muscle of normal controls. CoQ was markedly decreased in serum and muscle of 1 patient with Kearns-Sayre syndrome and treatment with CoQ resulted in a significant clinical improvement. The other 4 patients with Kearns-Sayre syndrome and the patients with ophthalmoplegia plus exhibited normal concentrations of CoQ in serum and muscle. CoQ levels in muscle of patients with progressive muscular dystrophies, myositis or neurogenic atrophies were within the normal range. Concentrations of CoQ in serum and muscle of normal controls were independent of age and showed no sex difference. The data indicate that CoQ deficiency might be the specific cause of mitochondrial encephalomyopathy in 1 patient but it was not the underlying defect common to all cases with Kearns-Sayre syndrome and ophthalmoplegia plus, although the possibility of a focal CoQ deficiency affecting only single muscle fibres cannot be excluded.
To differentiate between thyrotoxic myopathy and myodystrophy (of the limb-girdle type), severe myasthenia, polymyositis, Addison's disease, proximal spinal muscular atrophy, steroid myopathy and neurosis special diagnostic indices have been developed based on specific muscular weakness (and atrophy) pattern early in the disease, the sequence of separate muscles involvement as the pathological process progresses, disproportion between muscular weakness and atrophy, excessive folds of the skin above the affected muscles and the presence of deep reflexes, purposeful analysis of the anamnesis. The diagnosis is confirmed by thyroid function study and/or myopathy regression in response to antithyroid therapy.
Spinal muscular atrophy is a genetic disorder of the motor neurons that causes profound hypotonia, severe weakness, and often fatal restrictive lung disease. Patients with spinal muscular atrophy present a spectrum of disease from the most severe infantile-onset type, called Werdnig-Hoffmann disease (type 1), associated with a mortality rate of up to 90%, to a late-onset mild form (type 3), wherein patients remain independently ambulatory throughout adult life. Although many clinicians agree that patients with spinal muscular atrophy lose motor abilities with age, it is unknown whether progressive weakness occurs in all patients with spinal muscular atrophy. We present here results of the first prospective study of muscle strength in patients with spinal muscular atrophy. There was no loss in muscle strength as determined by a quantitative muscle test during the observation period. However, motor function diminished dramatically in some patients with spinal muscular atrophy. Explanations for this loss of function could not be determined from our data. Decrease in motor function could be caused by factors other than loss of strength. Therefore, it is not clear from our results whether spinal muscular atrophy is a neurodegenerative disease. We conclude that treatment trials in spinal muscular atrophy should be designed with consideration of the natural history of strength and motor function in this disorder.