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PubMedDate not supplied

Spinal muscular atrophy: the natural course of disease.

The infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) is thought to be progressive and usually fatal by age three. The intermediate and juvenile forms (Kugelberg-Welander disease) have been reported to be static in many cases. A review of 48 patients, 50% of whom had been followed for more than 10 years, were placed into four groups according to the maximum motor function attained. Progression of muscle weakness was assessed using functional criteria, including inability to walk, inability to use a manual wheelchair and inability to raise the hands above the head. The results of this analysis suggest that all patients with spinal muscular atrophy have a progressive disease and that the course of the deterioration is predictable in each of the four groups. This information allows one to offer realistic counseling and a rational rehabilitation program.

Adolescent↗
PubMed1984

[Late post-poliomyelitic muscular atrophy. Apropos of 14 cases].

The authors report 14 cases of late post-poliomyelitis muscular atrophies. The atrophy appears many years after the acute episode of anterior poliomyelitis. Several types of disorders were observed: extension of weakness and wasting; chronic spinal amyotrophy; amyotrophic lateral sclerosis without bulbar atrophy, coincidental muscular dystrophy. These cases have been interpreted in different ways. Further studies are necessary.

Adult↗
PubMed1988

Clinical and morphometric analysis of biopsied biceps brachii muscles in adult-onset chronic proximal spinal muscular atrophy. With special reference to intramuscular nerves.

In a group of 16 cases with adult-onset chronic proximal spinal muscular atrophy, we performed a morphometric analysis of 88 intramuscular nerves in biopsied biceps brachii muscles and correlated this analysis with clinical and histochemical parameters. The total number of large and small myelinated fibres in all fascicles was reduced to 71%, 23% and 83% of control values, respectively. The percentage reduction of large myelinated fibres for each case was significantly correlated with duration of illness, biceps muscle power and histochemical atrophy factors. Histograms of large intramuscular nerve fascicles showed unimodal distributions and shifts to the left with single peak increases at 1 micron. The densities of small myelinated fibres in large fascicles correlated with counts of 'enclosed' muscle fibres in ATPase preparations. Compared with amyotrophic lateral sclerosis, a lesser reduction of large myelinated fibres, but a greater increase in small myelinated fibres, was noted in adult-onset chronic proximal spinal muscular atrophy. These findings imply that there is a less marked loss of myelinated nerve fibres with more effective reinnervation in adult-onset chronic proximal spinal muscular atrophy than in amyotrophic lateral sclerosis.

Adult↗
PubMed1996

Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy.

We investigated the somatic mosaicism of trinucleotide repeat expansion in the neural and nonneural tissues of a dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), and spinal and bulbar muscular atrophy (SBMA) patient and their correlation to the topographical distribution of the pathological involvement. The spatial pattern of tissue-specific somatic mosaicism in the CAG repeat size was significantly different among the DRPLA, MJD and SBMA patients. The size of the major bands of the mutant CAG repeat allele was significantly smaller in the cerebellar cortex in both DRPLA and MJD patients by 6 and 2 repeat units respectively and larger in the colon and liver of DRPLA by 5 repeats or more. There were also 1-2 repeat-sized small variations of major band size among the neural tissues in DRPLA. In contrast, there was no tissue-specific variation of major bands of CAG repeats and diversity of extra bands among the examined tissues including the cerebellum in the SBMA patient. There was no parallel occurrence of tissue-specific CAG instability and severity of neuropathological involvement in the neural and nonneural tissues of DRPLA, MJD and SBMA patients. Lack of significant tissue-specific somatic mosaicism in SBMA including the cerebellar cortex may suggest that CAG repeat expansion in the mutant androgen receptor gene is far more stable compared with that in DRPLA and MJD as well as those reported in Huntington's disease.

Adult↗
PubMed1978

Juvenile type of distal and segmental muscular atrophy of upper extremities.

Seventy-one cases of distal and segmental muscular atrophy of the upper extremities with juvenile onset were studied. The clinical features consisted of: juvenile onset, male preponderance, unique distribution of the muscular atrophy in the hand and forearm, tendon reflexes hypoactive in most cases but hyperactive in some, no definite sensory disturbances, no involvement of the cranial nerves, and autonomic nerve disorders in the affected region. There was rapid progression during the 2 to 3 years after onset with a slowly progressive course thereafter. There were no abnormal laboratory findings except for electrophysiological and morphological findings of the affected muscles. The site of lesion was surmised to be from the C5 to T1 spinal segments with intramedullary involvement. The cause is unknown.

Adolescent↗
PubMed1978

Autosomal dominant spinal muscular atrophy: a clinical and genetic study.

A clinical and genetic study of 6 kindreds (13 patients) with autosomal dominant spinal muscular atrophy is presented. Evidence is presented to indicate that two separate autosomal dominant genes are involved. One of these causes clinical disease with onset in early childhood (birth--8 years), which is relatively benign and in which proximal selectively of muscle involvement is not marked. A separate autosomal dominant gene causes a disease with onset in adult life (median age 37 years), showing marked initial proximal selectively; this disease may be more rapid in its clinical progression. Penetrance of both genes approaches 100%. Incidence figures are presented; less than 2% of all cases of childhood onset spinal muscular atrophy, but 30% of adult onset cases, are due to an autosomal dominant gene transmitted from an affected parent. Implications for prognosis, diagnosis and genetic counselling are discussed. A review of 11 kindreds of dominant spinal muscular atrophy in the literature is presented.

Adolescent↗
PubMed1985

Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?

An unusual form of spinal muscular atrophy presenting with respiratory failure was observed in four infants from two families. In one, whose death was attributed to pneumonia, the diagnosis was inferred retrospectively after two siblings died from an identical illness and were shown to have diaphragmatic paralysis and the typical electrophysiological and histological features of spinal muscular atrophy. Other signs of skeletal muscular weakness were absent or inconspicuous. The fourth, unrelated infant presented in an identical way but has survived for over a year on a ventilator. Two months after the onset of respiratory paralysis, more extensive skeletal muscular weakness was seen. Other infants, dying of unexplained respiratory illness, may have this disorder and some may be included in the miscellany of disorders that constitute the sudden infant death syndrome.

Female↗
PubMed1997

[Delayed exacerbation of cervical myelopathy in a case of juvenile muscular atrophy of unilateral distal upper extremity].

We reported a case in which cervical myelopathy exacerbated 20 years after the stabilization of juvenile muscular atrophy of unilateral distal upper extremity. The patient presented progressive weakness in the right proximal upper extremity and spastic paraparesis in addition to the long-lasting muscular atrophy of right distal upper extremity. Plain x-ray showed severe cervical spondylosis with kyphosis of the cervical spine. Dynamic study on MRI disclosed cervical spinal cord atrophy and compression enhanced in both flexion and extension position of the neck. Malalignment (kyphosis) and severe spondylotic change of the cervical spine seemed to affect the spinal cord with little functional reservoir, manifesting the delayed exacerbation of myelopathy. We conclude that malalignment and subsequent spondylotic change of the cervical spine would be significant factors to determine the long term prognosis of patients with juvenile muscular atrophy of unilateral distal upper extremity.

Arm↗
PubMed1987

A pedigree with protanopia and bulbospinal muscular atrophy.

We have studied one family of a pedigree in which bulbospinal muscular atrophy and protanopia were segregated. Genotypes for these disorders were obtained on three generations, and the maximum likelihood estimate of recombination fraction was 0.4 with the lod score method. The results indicated that the two loci are not close; the locus for bulbospinal muscular atrophy is not located near the end of the long arm of the X chromosome.

Color Perception↗
PubMed1979

[Juvenile, non-progressive muscular atrophy localized in the hand and forearm. Report of 16 cases (author's transl)].

Sixteen cases of juvenile, non-progressive muscular atrophy localized in the hand and forearm were seen at our neurology out-patient clinic for the past 8 years. The analyses of these 16 cases disclosed characteristic features as follows: 1) juvenile onset 2) male preponderance 3) unique distribution of muscular atrophy and weakness in the hand and forearm. 4) insidious onset, initial progressive period and subsequent non-progressive course 5) tendon reflexes of the arms are hypoactive in half of the cases 6) no pathological reflexes 7) cold paresis 8) no definite sensory disturbance 9) no cranial nerve involvement 10) neurogenic patterns on EMG According to these features, this clinical entity carrying good prognosis must be differentiated from several diseases associated with similar muscular atrophy of extremities, especially amyotrophic lateral sclerosis which is notorious as a fetal disease.

Adolescent↗
PubMed1999

Spinal muscular atrophy variant with congenital fractures.

A single report of brothers born to first-cousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and muscle biopsies were consistent with a form of spinal muscular atrophy. Molecular studies identified no abnormality of the SMN(T) gene on chromosome 5. This case serves to validate the suggestion of a distinct and rare form of spinal muscular atrophy while not excluding possible X-linked inheritance.

Adolescent↗
PubMedDate not supplied

Facioscapulohumeral type spinal muscular atrophy: report of a case.

A case of muscular weakness and atrophy with a facioscapulohumeral distribution is described in this report. The neurogenic origin, as judged from the results of laboratory studies, is discussed. The diagnosis and classification of the spinal muscular atrophy syndrome are also discussed. Facioscapulohumeral type spinal muscular atrophy is thought to constitute a distinct form of spinal muscular atrophy.

Adolescent↗
PubMed2005

Rapidly progressive spinal muscular atrophy in an ambulatory 2-year-old male.

A 2-year 9-month-old male was referred for gait disturbances. Main complaints were abnormal gait with frequent falls observed as soon as he began to walk unaided, at 18 months of age. The first neurologic examination revealed symmetric and proximal weakness in the lower limbs with difficulty running and walking upstairs. Deep tendon reflexes were decreased, and generalized hypotonia was observed. Three months later, at 3 years of age, he had lost independent gait, and 1 month later he could not stand unaided. DNA analysis revealed homozygous deletion in exons 7 and 8 of SMN1 gene, confirming the diagnosis of spinal muscular atrophy. According to the current classification, this patient would be classified as spinal muscular atrophy type III. The distinctive feature of this case was the short time elapsed (18 months) between onset of spinal muscular atrophy and the age at which he lost ambulation. This patient reinforces the notion that late onset of symptoms in spinal muscular atrophy and acquisition of independent gait do not exclude a rapidly progressive motor deterioration, which is important when talking with families about outcome. In those rapidly progressive cases, when promptly available, testing for SMN1 gene will prevent unnecessary, invasive, or uncomfortable procedures such as lumbar puncture, electromyography, or spinal cord magnetic resonance imaging.

Child, Preschool↗
PubMed1992

[Correlation between clinical features and neuroradiological findings in juvenile muscular atrophy of unilateral upper extremity (Hirayama disease)--with and without "tight dural canal in flexion"].

Myelography was performed in 12 patients with juvenile muscular atrophy of unilateral upper extremity. Seven patients showed anterior shift of lower cervical dural canal in flexion (tight dural canal in flexion) (T group), however the other 5 patients did not show "tight dural canal in flexion" (NT group). Onset of illness and sex were not different between 2 groups. However, there was a tendency that the neurological signs and symptoms were more severe in the patients of T group than those of NT group. These results suggest that "right dural canal in flexion" can be one of mechanisms which exhibit the clinical symptoms of the juvenile muscular atrophy of unilateral upper extremity. However, there may be other etiological factors in the juvenile muscular atrophy of unilateral upper extremity.

Adolescent↗
PubMed2003

Anaesthesia for caesarean section in a patient with spinal muscular atrophy.

This report describes a 33-year-old primigravid woman with spinal muscular atrophy Type III (Kugelberg-Welander syndrome). Elective caesarean section was performed at 38 weeks gestation under spinal anaesthesia. The implications of spinal muscular atrophy for anaesthesia for caesarean section are described.

Adult↗
PubMed1995

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.

Autosomal recessive childhood onset spinal muscular atrophy has been mapped to chromosome 5q13. We report the analysis of a polymorphic microsatellite which shows linkage disequilibrium with the disease. The linkage disequilibrium is observed with a null allele which is seen as the non-inheritance of alleles from one or both parents. The inheritance of a null allele was observed in 26 out of 36 (72%) informative childhood onset spinal muscular atrophy (SMA) families tested, of all types of severity and from a variety of ethnic backgrounds. In seven families segregating for the severe Werdnig-Hoffmann or SMA type I, no alleles were inherited from either parent using this microsatellite. This null allele may represent a deletion which is either closely associated with, or causes, the disease.

Alleles↗
PubMed2001

Juvenile muscular atrophy of the distal upper limb (Hirayama disease) associated with atopy.

Juvenile muscular atrophy of the distal upper limb (Hirayama disease) is a rare disease predominantly affecting the anterior horn cells of the cervical spinal cord in young men. Although the disease is considered to be a type of cervical myelopathy, the mechanism remains unknown. An immunological study of five consecutive patients with this disorder who were examined in the neurology clinic at Kyushu University Hospital during the past 2 years were performed. All developed distal muscular atrophy and weakness of one or both upper limbs in the second decade, and showed forward displacement of the dural sac and passive dilatation of the posterior venus plexus at the lower cervical portion on MRI during neck flexion. Four of the five patients had one or more coexistent airway allergies, such as allergic rhinitis, pollinosis, and asthma, and all five patients had a family history of atopic or allergic disorders in close relatives. Four of the five patients had mild eosinophilia. All five patients commonly had IgE specific to two mite antigens, Dermatophagoides pteronyssinus and Dermatophagoides farinae, whereas three of them also showed a raised total serum IgE concentration. The frequency of mite antigen specific IgE was significantly higher in the present patients with Hirayama disease than in 82 healthy controls (26/82, p<0.005). These findings suggest that atopy may be one of the contributing factors for Hirayama disease.

Adolescent↗