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At least 145 records · Page 8Linked to original sources
PubMed1975

Progressive neural muscular atrophy in a case of phenylketonuria.

Clinical, neurophysiological and nerve-biopsy findings are described in a 13-1/2-year-old boy with classical phenylketonuria who developed progressive muscular atrophy. Clinical examination revealed atrophy of the calf muscles and pes varus. Tendon jerks were brisk in the upper extremities but were absent in the right leg and weak in the left leg. Nerve conduction velocities of the median and peroneal nerve were strongly reduced. Light- and electronmicroscopic investigation of sural nerve biopsy revealed axonal dystrophy and 'onion-bulb' formation of the Schwann cells. It is assumed that the combination of phenylketonuria and progressive muscular atrophy in this patient is an accidental occurrence.

Adolescent↗
PubMed1989

Downward shift in IQ in persons with Duchenne muscular dystrophy compared to those with spinal muscular atrophy.

Patients with Duchenne progressive muscular dystrophy (DMD) and those with spinal progressive muscular atrophy (SPMA) were compared on the basis of memory and IQ. The DMD group was inferior to the SPMA group in memory tests and Full Scale IQ. The DMD group showed poorer scores, despite the fact that functional disabilities and social environments were similar for the two groups. Results thus support the current view that lower IQ is one of the primary manifestations of DMD.

Adolescent↗
PubMedDate not supplied

[Progressive spinal muscular atrophy of proximal location in adults].

The authors report two cases of familial progressive muscular atrophy of proximal localization, with late onset of signs which was associated with involvement of the motor nucleus of trigeminal nerve and hypoglossus nerve nucleus as well as with presence of gynaecomastia. Cases of coexistence of gynaecomastia with spinal muscular atrophy are rare in the literature and the present report may serve for explanation whether the association of these signs is accidental or whether it is a separate nosological entity.

Age Factors↗
PubMed2003

Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.

Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations of the survival motor neuron 1 gene (SMN1). No curative treatment is available. Mutant mice carrying homozygous deletion of Smn exon 7 directed to neurons display a degenerative process of motor neurons similar to that found in human SMA. To test whether riluzole, which exhibits neurotrophic properties, might have a protective role in SMA, mutant mice were treated with it after the onset of the degenerative process. Riluzole improved median survival and exerted a protective effect against aberrant cytoskeletal organization of motor synaptic terminals but not against loss of proximal axons. These results demonstrate that the disease course of SMA can be attenuated after the onset of neuromuscular defects and may warrant further investigation in a therapeutic trial in SMA.

Animals↗
PubMed1984

[Adult form of acid maltase deficiency presenting as progressive spinal muscular atrophy].

As far as could be elucidated, a sporadic manifestation of a slowly progressing muscular weakness and atrophy had commenced in a female patient symmetrically in the pelvic girdle and thigh region at the age of about 22 years. Only at the age of 55 years a precise neurological examination was done. On the basis of clinical and electromyographic data spinal muscular atrophy of the Kugelberg-Welander type was diagnosed. Muscular biopsy demonstrated severe far-progressed neurogenic muscular atrophy. In addition, increased storage of PAS-positive material was noticed. This was particularly true in the sparsely preserved, non-denervated muscular areas changed in the manner of an accompanying myopathy. Complementing electron microscopy and pathobiochemistry in the muscular biopsy showed an adult form of lack of acid maltase (Pompe's disease) aetiologically. This enzyme defect could also be demonstrated in the white cells of this patient.

Adult↗
PubMedDate not supplied

[Family with progressive myelopathic muscular atrophy with proximal distribution and onset in adulthood].

The Authors present two brothers suffering from proximal progressive muscular atrophy arising in adulthood and describe its clinical, bioptic and electromyographic characteristics. Electromyographic and bioptic examinations demonstrate the neurogenic nature of the amyotrophy and localize the causal lesion at the level of the anterior horns of the spinal medulla. With regard to the differential diagnosis, the nosographic position of the disorder in question is described, and the hypothesis advanced that it may represents the late onset variety of Wohlfart-Kugelberg-Welander disease.

Amyotrophic Lateral Sclerosis↗
PubMedDate not supplied

Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.

Two siblings with neonatal adrenoleukodystrophy are described. The signs and laboratory data documenting infantile progressive spinal muscular atrophy included the initial presentation of 1 sibling with neonatal adrenoleukodystrophy. These patients indicate that neonatal adrenoleukodystrophy should be considered in the differential diagnosis of infantile progressive spinal muscular atrophy.

Adrenoleukodystrophy↗
PubMed1997

Pattern of motor neurone disease in eastern India.

A clinical study about the pattern of motor neurone disease in eastern India was carried out from July 1993 to June 1995 at Bangur Institute of Neurology, Calcutta and SSKM Hospital, Calcutta. A total of 110 cases were studied and they constituted 0.11% of all neurological cases seen in the general OPD. Of 110 cases, amyotropic lateral sclerosis (ALS) constituted 43.6%, progressive muscular atrophy (PMA) 10.9%, post-polio progressive muscular atrophy (PPMA) 1.8%, spinal muscular atrophy (SMA) 20%, atypical form Madras pattern of MND (MMND) 0.9% and monomelic amyotrophy (MMA) 22.7% of cases. Disease is more common in males than females and average duration of symptoms before presentation varied from 1 to 12 months. Most of the patients were either agricultural labourers or manual workers in ALS variety whereas MMA variety was evenly distributed in both hard labourers and sedentary workers. Most of the patients in MMA and SMA groups presented before 30 years of age whereas ALS and PMA group presented after 30 years. Trauma was the commonest antecedent event in ALS and MMA followed by electrocution in the same two groups. Family history was found to be absent in SMA group though the disease is considered as a hereditary one. Weakness of the limbs and wasting of the muscles were common presenting symptoms and signs. Bulbar symptoms and signs were found only in the ALS group. EMG showed neurogenic pattern and mixed pattern in most of the patients in all groups. Only a few patients showed myopathic pattern. Neuroimaging study helped in exclusion of compressive lesion excepting two cases of MMA where facetal hypertrophy was present. Monomelic amyotrophy, a special variety of motor neurone disease, is not rare in this part as compared to other parts of India and Asia.

Female↗
PubMed1994

[Enhanced regeneration of terminal axons after hyperbaric oxygen therapy in a patient resembling progressive postpoliomyelitis muscular atrophy].

We found an electromyographical proof of reconstruction of the motor nerve terminals following hyperbaric oxygen therapy. A 38-year-old man who had been partially recovered for thirty four months from acute onset paraplegia following a gastrointestinal infection developed progressive muscular atrophy and weakness of the lower limbs, and was first admitted to our hospital. Cerebrospinal fluid examination was normal and nerve conduction studies showed small compound muscle action potentials without an evidence of segmental demyelination. There were ample fibrillation potentials on electromyography. Single fiber electromyography (SFEMG) showed increased fiber density, abnormal jitter and blockings without neurogenic jitter, which were similar to findings in post-poliomyelitis syndrome. He was treated by hyperbaric oxygen consisting of two hour exposures to pressures of two atmospheres breathing 100% oxygen. These exposures continued for a month daily, and thereafter once a week for one year. Clinical improvement of the weakness and a decrease in amount of fibrillation potentials occurred on and after a month after treatment. We found significant changes on SFEMG a year later. There were increased fiber densities and decreased mean values of consecutive differences. These changes indicate diminished degeneration and enhanced regeneration of the terminal axons. We think that hyperbaric oxygen has a beneficial effect on oxygen metabolism of remaining motoneurons which may not be able to maintain excessive metabolic demands of all their sprouting axons.

Adult↗
PubMed1990

[Anesthetic management of a patient with progressive spinal muscular atrophy].

Various problems especially weakness of respiratory muscle and abnormal reaction to muscle relaxant exist during the management of anesthesia for the patients with neuromuscular disease with the disturbance of motor neurons. We had a patient for trans-urethral resection of prostate with spinal progressive muscular atrophy. Using nitrous oxide-oxygen with halothane, and without muscle relaxant, we succeeded in avoiding respiratory failure, aspiration and other serious complications. By measuring serum sodium, rapid discovery and treatment of water intoxication could be achieved.

Aged↗
PubMedDate not supplied

[Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood].

There are few cardiological studies in progressive spinal muscular atrophy and mainly concern subjects affected by the juvenile form (Kugelberg-Welander disease). The presence of a cardiomyopathy has been reported in these patients but the cardiac involvement is often secondary to the chronic respiratory insufficiency typical of the disease. We performed a retrospective study in our Institute on 43 patients, age range 3 months to 3 years, 37 of which presented type I (Werdnig-Hoffmann disease) and 6 type II (intermediate form) of the disease. No clinical nor instrumental signs of cardiomyopathy were observed. However, ECG revealed signs of right ventricular overload in 37.3% of the patients, probably provoked by pulmonary hypertension due to respiration anomalies. The authors underline the importance of correct respiratory assistance to prevent onset of cardiological alterations.

Cardiomyopathies↗