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PubMedDate not supplied

Spinal muscular atrophy in the neonate.

Spinal muscular atrophy (SMA) type I is an autosomal recessive disorder characterized by loss of lower motor neurons in the spinal cord. This severe hereditary neurodegenerative disorder is an important cause of morbidity in the neonate and the leading hereditary cause of infant mortality. The characteristic degeneration of anterior horn cells in the spinal cord leads to progressive muscular weakness and atrophy of the skeletal muscles. In SMA type I, the most severe form of SMA, death usually ensues by 2 years of age from respiratory failure or infection. Accurate diagnosis is now available through genetic testing, and progress is being made toward the development of therapy based on understanding of the disease mechanism. The neonatal nurse plays a pivotal role in identifying and caring for these medically fragile infants and in providing support and education for parents and families.

Chromosome Deletion↗
PubMed2005

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset (mean age at onset 13 years [8 to 15 years]), and rapid progression leading to compromised ambulation in the mid-20s.

Adolescent↗
PubMed1999

Process measures and patient/parent evaluation of surgical management of spinal deformities in patients with progressive flaccid neuromuscular scoliosis (Duchenne's muscular dystrophy and spinal muscular atrophy).

STUDY DESIGN: Fifty-four consecutive patients with flaccid neuromuscular scoliosis (33 with Duchenne's muscular dystrophy, 21 with spinal muscular atrophy) who had undergone surgery for their disorder between 1985 and 1995 were sent questionnaires to evaluate function, self-image, cosmesis, pain, pulmonary status, patient care, quality of life, and satisfaction. Forty-eight patients returned the questionnaires. OBJECTIVE: To assess patient/parent satisfaction and clinical/functional ways in which spinal fusion helped or did not benefit these patients and to assess complications and the ultimate radiographic result. SUMMARY OF BACKGROUND DATA: There are only a few reports of results of spinal fusion and segmental instrumentation for flaccid neuromuscular disorders. There are no published reports regarding patient/parent evaluation of the procedure. METHODS: Results of the questionnaire were tallied, graded, and divided into eight categories. The questionnaire was validated by a Cronbach's alpha analysis, a test-retest, and a comparison with questionnaire answers from patients with idiopathic scoliosis. Radiographic data and complications also were accumulated. The follow-up periods after surgery ranged from 2 to 12.6 years (average, 7.8 years). RESULTS: Except for two patients who died within 3 months of surgery, all patients seemed to have benefited from the surgery. Cosmesis, quality of life, and overall satisfaction rated the highest. CONCLUSION: These data indicate that spinal fusion with segmental spinal instrumentation benefits most patients with Duchenne's muscular dystrophy or spinal muscular atrophy with spinal deformities in terms of all categories assessed, even though these diseases have a progressively deteriorating course.

Adolescent↗
PubMed2004

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Chronic distal spinal muscular atrophy (Chronic DSMA, MIM (*)607088) is a rare autosomal recessive disorder characterized by a progressive motor weakness and muscular atrophy, predominating in the distal parts of the limbs. A form of Chronic DSMA gene has been previously mapped to chromosome 11q13 in the 10.3 cM interval defined by loci D11S1889 and D11S1321. By linkage analysis in 12 European Chronic DSMA families, we showed that a disease gene maps to chromosome 11q13.3 (Z(max)=6.66 at theta=0.00 at the DSM4 locus) and suggested that this condition is genetically homogeneous. Recombination events allowed us to reduce the genetic interval to a 2.6 cM region, telomeric to the IGHMBP2 gene, excluding this gene as the disease causing gene in Chronic DSMA. Moreover, partial linkage disequilibrium was found between three rare alleles at loci D11S1369, DSM4 and D11S4184 and the mutant chromosome in European patients. Analysis of the markers at these loci strongly suggests that most Chronic DSMA chromosomes are derived from a single ancestor. Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations.

Chromosome Mapping↗
PubMed1995

[Progressive cerebellar ataxia and distal amyotrophy of Charcot-Marie-Tooth type with hyperglutamataemia:two sibling cases].

We reported two sibling cases of progressive cerebellar ataxia accompanied with muscular atrophy of Charcot-Marie-Tooth (CMT) type. Autosomal recessive inheritance was suggested because of the parental consanguinity and other family history. The first symptom was ataxic gait in their teens, and speech disturbance appeared later. Subsequently weakness and muscular atrophy developed in the four limbs in their thirties or forties. These symptoms slowly progressed. Neurological examinations revealed weakness, muscular atrophy, and disturbance of superficial and deep sensation in the distal parts of all limbs. Deep tendon reflexes were absent in the four limbs. There were no pyramidal tract signs, nor dementia. Sural nerve biopsy demonstrated the axonal degeneration without any findings suggesting hypertrophic neuritis. MRI study revealed marked cerebellar atrophy. Although plasma amino acid analysis showed elevated glutamate levels in both cases, activities of glutamate dehydrogenase in leukocytes was not reduced. Here, we propose a new disease entity of hereditary cerebellar ataxia and sensorimotor neuropathy associated with elevated plasma glutamate levels. Abnormal glutamate metabolism may be related to the pathogenesis of this disease.

Adult↗
PubMed1998

Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity.

Mild to moderately elevated creatine kinase (CK) activity is a frequent biochemical finding in proximal spinal muscular atrophy (SMA). In a collaborative study on all types of childhood and juvenile onset SMA, we analysed the CK activity of 504 SMA patients (138 type I, 127 type II, 144 type IIIa, and 95 type IIIb patients). Under the assumption of a lognormal distribution of CK activity as the most appropriate statistical model, CK levels were transformed into logarithms and compared by standard deviation scores = CK-SDS (log). CK activity was statistically different between early and later onset SMA: in SMA I and II, about one-third of patients showed CK-SDS (log) >2 SD, the analysis of the means did not show significant differences. In SMA III, CK-SDS (log) was significantly higher (p < 0.01) than in the two other groups, which was most pronounced in SMA IIIb. More than 90% of SMA IIIb patients showed CK-SDS (log) values >2 vs. 57% in SMA IIIa. As similar values were obtained for a subgroup of 100 patients in whom the diagnosis of autosomal recessive SMA was confirmed by a deletion of the telomeric copy of the survival motor neuron gene, our results can be considered representative for SMA I-III. There was no correlation between CK level and disease duration. The fact that patients were ambulatory or chair-bound had no influence on CK activity in type III SMA. There was no sex influence in SMA I, II and IIIa. The observed higher male values in the group SMA IIIb are most likely the result of a lack of female patients with onset after puberty.

Adolescent↗
PubMed1993

An augmented computer model of motor unit reorganization in neurogenic diseases of skeletal muscle.

A computer model of denervation and complete reinnervation in skeletal muscle was originally developed for the purpose of furthering an understanding of the underlying mechanisms of motor unit reorganization in neurogenic diseases. We now describe its successor, a computer model for investigating different rates of denervation and reinnervation, as well as incomplete reinnervation. The new model introduces the concept of permanent denervation and features enhanced interactive control over the distribution of motor unit centers and additional measures of dispersion and co-dispersion of muscle fibers. The use of this model for investigating pathophysiologically significant issues in denervating diseases is illustrated with five different sets of parameters. These simulate some of the processes that may be operational in chronic spinal muscular atrophy, amyotrophic lateral sclerosis, and progressive postpolio muscular dystrophy. The enhanced model will allow in-depth analysis of the influence of hypothesized pathophysiological processes on clinical, electrophysiological and pathological outcomes in human disease.

Computer Simulation↗
PubMed1976

Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, and Charcot-Marie-Tooth disease.

Children with progressive neurological conditions such as spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia (Riley-Day syndrome), and Charcot-Marie-Tooth disease have a significant risk of acquiring a serious spinal deformity. As with paralytic scoliosis following poliomyelitis, the curves are difficult to control with bracing, and progression does not cease with maturation. An increasing spinal curvature may lead to loss of ambulation or, for the wheelchair-bound patient, loss of sitting balance. The curvature may further compromise pulmonary function that may already be compromised by the neurological deficit. Twenty patients are reported with an average follow-up of six years (range, one to fourteen years). For the properly selected patient, surgical stabilization of the spine arrested the progress of the curve and improved function. Complications were few; however, pseudarthrosis was more common than in patients with non-neurological problems.

Charcot-Marie-Tooth Disease↗
PubMed1998

[X-chromosomal bulbospinal muscular atrophy (Kennedy syndrome)].

Two brothers with slowly progressive weakness and congenital nystagmus are presented. DNA analysis confirmed X-linked recessive bulbospinal muscular atrophy (XBSMA, Kennedy's disease) by demonstration of increased size of a CAG-triplet repeat on the androgen receptor gene on the X-chromosome. XBSMA is characterized by almost symmetrical muscular atrophy, weakness and fasciculations predominantly of bulbar, facial and proximal muscles of the extremities, with onset in the third to fifth decade. Tendon reflexes are depressed and pyramidal signs are absent. Sensory symptoms are clinically rare, but sensory nerve action potentials are frequently abnormal. Additional symptoms are important for differential diagnosis, and include postural tremor, gynecomastia, diabetes mellitus, testicular atrophy and impotence. Differentiation of this hereditary disorder from treatable conditions such as multifocal motor neuropathy or amyotrophic lateral sclerosis is essential. Though life expectancy is normal, patients become disabled in the course of the disease and need supportive care. Periodic testing for diabetes is recommended, and genetic counseling should be provided for patients and their relatives.

Adult↗
PubMed1996

Early-onset myopathy with tubular aggregates.

We report a 14-year-old girl with early onset of slowly progressive muscular weakness and atrophy. There was no family history of neuromuscular disease. A persistent increase of serum creatine kinase was found. Muscle biopsy specimens showed type 1 fiber predominance and tubular aggregates in almost every fiber. The clinical findings and pathology suggest that the disease represents one variant in a group of rare myopathies with different patterns of inheritance, characterized by slowly progressive muscle weakness and tubular aggregates.

Adolescent↗
PubMed1971

The genetic heterogeneity of spinal muscular atrophy (SMA).

The clinical picture of the spinal muscular atrophy varies greatly with respect to age of onset, speed of progression, severity and distribution of muscular atrophy, weakness and contractures, yet cases occurring within a family usually show concordant clinical features. Thus, genetic heterogeneity has to be assumed. This is supported by the various genetic transmission patterns (autosomal dominant, recessive, X-linked recessive) found by accurate pedigree analysis.

Age Factors↗
PubMedDate not supplied

Labor analgesia and anesthesia in a patient with spinal muscular atrophy and vocal cord paralysis. A rare and unusual case report.

BACKGROUND AND OBJECTIVES: A case of labor analgesia and anesthesia in a 23-year-old woman with spinal muscular atrophy and vocal cord paralysis is reported. As spinal muscular atrophy is a progressive degenerative disorder of spinal anterior horn cells, with generalized neuromuscular weakness as a common sequela, the goal of anesthetic management is to provide satisfactory labor analgesia and anesthesia with minimal compromise of respiratory function. METHODS: A lumbar epidural anesthetic technique was used to provide satisfactory labor analgesia and anesthesia for a low forceps delivery. RESULTS: The anesthetic technique provided a safe delivery. As the patient was awake, she was able to assist with the expulsion phase of labor. The rare published reports of spinal muscular atrophy and obstetric management are reviewed, the known pertinent physiologic derangements of the syndrome in concert with pregnancy being detailed, along with any information provided regarding anesthetic techniques. CONCLUSIONS: It is believed that labor analgesia and anesthesia can be provided adequately with lumbar epidural techniques. An understanding of the physiology underlying spinal muscular atrophy is essential to safe anesthetic management of the laboring parturient.

Adult↗
PubMed1987

Chronic polyneuritis in a Rottweiler.

A 2-year-old male Rottweiler was examined because of progressive weakness and muscular atrophy in the 4 limbs. Neurologically, the disease was characterized by hypoactive segmental reflexes without ataxia. Function of the cranial nerves was maintained. Electromyographic findings, nerve conduction velocity measurements, recordings of somatosensory-evoked potentials, and results of histologic examination of nerve and muscle biopsy specimens indicated a peripheral neuropathy. Rapid progression of the disease over a 4.5-month period was observed before the dog was euthanatized. Necropsy was performed, and the histopathologic findings confirmed peripheral neuropathy, which appeared to involve the peripheral myelin. An immune-mediated process was suspected.

Animals↗
PubMed1991

[A case of unilateral lingual atrophy and ipsilateral muscular atrophy supplied by trigeminal nerve--in relation to progressive facial hemiatrophy].

A 39-year-old man was admitted to our hospital because of atrophy of the right side of the tongue of 6 years' duration. Neurological examination showed atrophy and fasciculations in the right side of the tongue. Magnetic resonance imaging showed atrophy and high signal intensity areas on T1 and T2 weighted images in the right masseter, temporal, lateral and medial pterygoid muscles. Electromyography showed fibrillations and positive sharp waves at rest, high amplitude polyphasic motor unit potentials with weak contraction in the right tongue and masseter muscles. Examination of autonomic functions suggested postganglionic lesion of right facial sympathetic nerves. We believe that this case may be related to progressive facial hemiatrophy.

Adult↗
PubMed2006

Gene-based treatment of motor neuron diseases.

Motor neuron diseases (MND), such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), are progressive neurodegenerative diseases that share the common characteristic of upper and/or lower motor neuron degeneration. Therapeutic strategies for MND are designed to confer neuroprotection, using trophic factors, anti-apoptotic proteins, as well as antioxidants and anti-excitotoxicity agents. Although a large number of therapeutic clinical trials have been attempted, none has been shown satisfactory for MND at this time. A variety of strategies have emerged for motor neuron gene transfer. Application of these approaches has yielded therapeutic results in cell culture and animal models, including the SOD1 models of ALS. In this study we describe the gene-based treatment of MND in general, examining the potential viral vector candidates, gene delivery strategies, and main therapeutic approaches currently attempted. Finally, we discuss future directions and potential strategies for more effective motor neuron gene delivery and clinical translation.

Amyotrophic Lateral Sclerosis↗
PubMed1995

Urinary excretion of lead and mercury after oral administration of meso-2,3-dimercaptosuccinic acid in patients with motor neurone disease.

Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are progressive neurodegenerative disorders involving motor neurones. The aetiology of the non-familiar forms is still unknown but it has been suggested that long-term exposure to heavy metals such as lead and mercury may play a role in the pathogenesis of these diseases. In 53 patients suffering from ALS (n = 42) and SMA (n = 9) the oral administration of dimercaptosuccinic acid (DMSA, 20 mg/kg) did not result in a greater mobilization of lead and mercury from peripheral depots than in control subjects. Although it cannot be excluded that the amount of lead or mercury excreted after DMSA administration may not be a reflection of the amount accumulated in the motor neurons, this study does not provide support for the hypothesis that heavy metals play a significant role in the occurrence of motor neurone diseases.

Adult↗