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At least 919 records · Page 51Linked to original sources
PubMed1991

[Post-poliomyelitis late progressive muscular atrophy (PPMA)--clinical analyses of Japanese cases].

Clinical and epidemiologic analyses of PPMA in Japan based on the nation-wide case survey were reported, and differences between PPMA and ALS were discussed. The present survey covering the years from 1984 through 1991 cited 42 PPMA cases (30 male:12 female). The absolute incidence of PPMA is estimated 0.12/10(5) of the Japanese population (about 150 cases in total), which indicates 0.5% of the polio survivors. In Japan an actual increase of patients is noticed in these 10 years, which reflects the big epidemic of polio around 1950-60. The antecedent poliomyelitis occurred at the mean age of 2.6, mostly between 1940 and 1960. Residual paralysis was generally absent or only minimal. Late muscular atrophy and weakness were noticed at age from 16 to 63 y (mean:41.5), with the mean latency of 40.1 years after polio. Both polio-affected and unaffected site of the limb were equally involved by PPMA, but the left leg tends to be predominantly involved. Neurological symptoms were summarized as an asymmetrical proximal muscular atrophy and flaccid motor paresis in one or two limbs with decreased tendon reflexes. Fasciculation in 45.2%, myalgia in 28.6%, and hypesthesia in 28.5% were noticed. Electromyography and muscle CT scan showed marked selective neurogenic changes. In most cases symptoms are stable or slowly progressive, with some recovery by rest or rehabilitation and deterioration by over work and/or trauma. On regarding these clinical features, PPMA is essentially different from classical ALS. Long-term hyperfunction of survived neurons with potential fragility by polio infection is suspected to mediate PPMA.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1989

Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.

Facioscapulohumeral disease is probably a heterogeneous disorder. We have ascertained and sampled two multigeneration families with the neurogenic form of this disorder, considered to be a type of spinal muscular atrophy (FSHSMA). The two families have 36 affected members. Linkage studies with 10 expressed and seven DNA restriction fragment length polymorphism (RFLP) markers failed to show significant linkage (Zmax greater than or equal to 3.00). However, two areas of probable linkage were defined on chromosomes 1p and 4q with the markers MNS (Zmax = 1.47 at theta max = 0.10) and PGM1 (Zmax = 0.94 at theta max = 0.001) respectively. We are using additional RFLPs from these and other areas of the human genome to screen these families for linkage to FSHSMA.

Chromosome Mapping↗
PubMed1995

[Pregnancy and delivery in a woman with neuromuscular disease. Spinal muscular atrophy and severely reduced pulmonary function].

Pregnancy and delivery are described in a 22-year-old woman suffering from spinal muscular atrophy. In spite of severe respiratory insufficiency with a vital capacity of 0.6 litre, pregnancy and planned caesarean section in general anaesthesia went without complications. Some explanations for this are presented. Teams involving respiratory centres specialized in the treatment of patients with neuromuscular diseases, obstetricians and neurologists are recommended. These teams may carry out individual counselling, frequent controls, respiratory support and planning of delivery.

Adult↗
PubMed1998

Congenital autosomal dominant distal spinal muscular atrophy.

We present a father and son with congenital foot deformity. The father at age 41 years used crutches and the son at 7 years walked unaided. Both had atrophy and weakness of lower leg muscles and mild proximal and hand intrinsic weakness. Knee and ankle myotactic reflexes were absent and sensation was intact. Creatine kinase level was normal, nerve conduction studies wer normal and electromyography showed chronic neurogenic change. In both, nerve biopsies were normal and muscle biopsies showed type 1 predominance. The boy's serum hexosaminidase, spinal MRI and SMN gene were normal. This may be the first well documented example of congenital autosomal dominant distal spinal muscular atrophy affecting legs and arms.

Adult↗
PubMed1990

[Global management of infantile spinal muscular atrophy. Practical guide for medical staff].

After a brief recall of clinical features, an outline of care for children with spinal muscular atrophy or severe neuromyopathies is proposed. With regard to respiration, the aim is to allow pulmonary growth, mainly through preventive ventilation. From the orthopaedic point of view, the main goal is to prevent contractures and kyphoscoliosis. Moreover, several methods of technical assistance can be proposed in order to make everyday life easier and allow familial and social insertion.

Child↗
PubMed1984

Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island.

A retrospective study of Werdnig-Hoffmann disease (spinal muscular atrophy type I) was undertaken on Reunion Island. Nineteen WH cases born between 1969 and 1980 were recorded belonging to thirteen sibships of the European population of the island. Genealogical analysis, going back to the XVIIth century (1642), showed a relationship among the 13 families, which were derived from a common ancestral pair. A founder effect is the most probable explanation for the concentration of Werdnig-Hoffmann disease in the area.

Adolescent↗
PubMed2006

Nonprogressive juvenile-onset spinal muscular atrophy: A clinico-radiological and CAG repeat study of androgen receptor gene.

BACKGROUND: Occurrence of nonprogressive juvenile-onset spinal muscular atrophy (SMA) predominantly in males suggests a possibility of X-linked disorder but there is no such report addressing this problem. AIMS: To evaluate CAG repeat expansion of androgen receptor (AR) gene in patients with nonprogressive juvenile-onset SMA. SETTING: Tertiary medical teaching institute. SUBJECTS AND METHODS: Patients fulfilling the diagnostic criteria of nonprogressive juvenile-onset SMA were included. Detailed clinical evaluation and pedigree charting were done in all. Nerve conduction study, electromyography and cervical spinal MRI were carried out. From peripheral venous blood, DNA was separated and AR gene CAG repeat exon polymorphism was assayed using polymerase chain reaction (PCR) in conjugation with genotyping and Gene scan soft ware. Number of CAG repeats was compared with normal controls. RESULTS: 25 patients with nonprogressive juvenile-onset SMA from 24 families were included and their mean age was 22.2 years. Age at the time of disease onset ranged between 15 and 30 years with a mean duration of illness 2.6 years. None of the patients had testicular atrophy or gynecomastia. C7-T1 myotomal wasting and weakness although was unilateral to begin with but became bilateral in 16 and 4 more patients had evidences of subclinical involvement of the other side as revealed by EMG. Spinal MRI revealed cord atrophy at C6-8 vertebral level in 16 patients. CAG repeat study of AR gene was carried out in 16 patients. The number of CAG repeats in patients ranged between 15 and 39 (median 21) which were within the normal range. CONCLUSION: Abnormal CAG repeat expansion of AR gene is not found in patients with nonprogressive juvenile-onset SMA.

Adolescent↗
PubMed1999

Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy.

Despite the increasing interest in cardiac involvement (CI) of neuromuscular disorders, only few data are available on CI in spinal muscular atrophy (SMA). We tried to determine the cardiac manifestations of SMA, their incidence rates and the necessity of cardiac therapy in patients with SMA and CI. Eight patients with SMA, aged 10-79 years, underwent clinical cardiologic examination, ECG, echocardiography and ambulatory ECG. The most frequent findings were angina pectoris, palpitations, exertional dyspnea, ST abnormalities, couplets, thickened myocardium and diastolic dysfunction. In conclusion, cardiac manifestations of SMA mainly comprise ECG abnormalities and thickened myocardium. CI in SMA frequently necessitates cardiac therapy.

Adolescent↗
PubMed1996

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic origin is genetically heterogeneous, with a subgroup being allelic to SMA. Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible.

Arthrogryposis↗
PubMed1994

Successful pregnancies in the presence of spinal muscular atrophy: two case reports.

We report two cases of successful pregnancy in women with chronic, infantile onset, or type II spinal muscular atrophy, both of whom delivered healthy, unaffected babies. The patients required concurrent management by a physiatrist, pulmonologist, and perinatologist throughout the pregnancy. Complications included recurrent urinary tract infections, dyspnea and worsening of pulmonary function, wheelchair seating and positioning problems, and musculoskeletal and low back pain. These problems resolved postpartum. One woman had vaginal delivery, the other had caesarean section, both of which were well-tolerated. Because of severe musculoskeletal deformity, pelvic assessment is necessary to determine the mode of delivery. The uterus has normal contractility and effective labor patterns can be established. Spinal/epidural anesthesia may be contraindicated because of spine deformity. The pregnancies had no deleterious effect on the progression of the disease in our patients, both of whom reported a positive experience with great personal fulfillment.

Adult↗
PubMed1992

Pregnancy and spinal muscular atrophy.

We investigated the course and outcome of pregnancy and its influence on muscle weakness in 12 females with proximal spinal muscular atrophy (SMA) who delivered a total of 17 infants when aged 18-32 years. In 4 females the SMA clearly followed an autosomal recessive mode of inheritance. The disease was autosomal dominantly inherited in 2 patients; the other 6 were sporadic cases. Ages of onset of SMA ranged from 8 months to 29 years; all the females learned to walk, and 10 out of 12 are still ambulatory aged 30-60 years. Pregnancy and delivery were complicated in 10 out of 12 patients by premature labour (4), prolonged labour (3) and delayed postpartum recovery (6). Caesarean section was performed in 3 cases. No deleterious effects on fetal outcome could be detected. Exacerbation of muscle weakness after the second trimester of pregnancy was experienced by 8 females: 5 noticed a persistent deterioration of SMA; in 3 muscle weakness worsened temporarily during pregnancy and was followed by marked improvement in the puerperium. The psychological perceptions, in retrospect, of 10 females concerning their decision to have children were evaluated.

Adult↗
PubMed2001

Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy.

OBJECTIVE: To assess the rate and type of urinary incontinence in a large sample of children and adolescents with spinal muscular atrophy (SMA), a genetic disorder characterized by loss of motor function caused by anterior horn degeneration. PATIENTS, SUBJECTS AND METHODS: The study included 96 severely incapacitated patients with SMA (aged 6.0-18.11 years) who were examined in detail, including a structured interview (Kinder-DIPS), the Child Behaviour Checklist (CBCL) and a specific questionnaire for urinary incontinence. They were compared with two control groups of unaffected siblings and normal children. RESULTS: In all, 29% of the patients were wet at night and/or during the day; mostly younger children with SMA types I and II only were affected. The results of the interview were more reliable than the CBCL. The specific questionnaire revealed a variety of possible functional and neurogenic forms of wetting, including nocturnal enuresis, voiding postponement, dysfunctional voiding, stress, symptomatic (urinary tract infections, UTIs) and neurogenic incontinence. Many patients were constipated, soiled or had UTIs. The rate of behavioural problems was twice as high (32%) as normal (15%; CBCL). CONCLUSION: Children with SMA have a high rate of urinary incontinence which is often overlooked, and not diagnosed and treated adequately. These problems should be addressed routinely by paediatricians in children referred to paediatric urological specialists.

Adolescent↗
PubMed1995

Isolation of microsatellites from the spinal muscular atrophy (SMA) candidate region on chromosome 5q and linkage analysis in Spanish SMA families.

A locus responsible for autosomal recessive spinal muscular atrophy (SMA) on chromosome 5q11.2-q13.3 has been mapped to a critical interval delimited by markers D5S435 and D5S557. By a modification of the Vectorette-(GT)n method, we have isolated three polymorphic CA repeats from two YACs of the SMA region. Two of them (D5S1417 and D5S1416) map within the SMA critical region, and the other (D5S1415) is centromeric to D5S435. Linkage analysis in Spanish SMA families with eleven markers showed that in our families the disease is linked to this region and confirmed that the novel markers are tightly linked to the SMA locus. The most likely order of markers was 5cen-(D5S63/D5S1356)-(D5S125/D5S465)- (D5S435/D5S1417/D5S1416/D5S557)-D5S610- D5S112-D5S127-5qter, with odds against alternative orders > 1,000:1. Genetic distances are in agreement with those previously published. However, the recombination fraction between D5S610 and D5S112 is remarkably greater than expected from the physical distance, suggesting a hot spot for recombination in this region. Our results from haplotype and multipoint analyses show that the SMA locus must lie between D5S465 and D5S112, and lend further support to the current location of the SMA locus.

Base Sequence↗