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At least 397 records · Page 22Linked to original sources
PubMed1993

Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.

Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurogenic type of arthrogryposis, limited to the upper limbs.

Adult↗
PubMed1999

[A family with probable autosomal dominant bulbospinal muscular atrophy with gynecomastia].

We reported a 52-year-old man and his family with bulbospinal muscle atrophy (BSMA) and gynecomastia. The propositus presented with the clinical picture of late onset progressive bulbospinal muscular atrophy including postural tremor, general hyporeflexia, mild maturity onset diabetes, gynecomastia and sexual impotence. One of his brother and his two sons had gynecomastia. His elder son had ocular movement abnormality, associated movement of facial muscle and finger tremor. One of his brothers showed tongue fasciculation without gynecomastia. None of members examined had abnormal expansion of CAG repeats in the androgen receptor gene. We speculate that this family has a new clinical entity characterized by bulbospinal muscular atrophy with an autosomal dominant inheritance.

Aged↗
PubMed1996

Mitochondrial myopathy simulating spinal muscular atrophy.

A patient with a severe progressive neuromuscular disorder resembling spinal muscular atrophy is reported. The initial muscle biopsy was consistent with a denervating process. DNA analysis did not reveal deletions in exons 7 and 8 of the survival motor neuron gene. Histology, histochemistry, and biochemistry of a second muscle biopsy suggested mitochondrial myopathy accompanying the denervating features. Immunohistochemistry using anti-DNA antibodies revealed only nuclear staining in skeletal muscle, suggesting mitochondrial DNA depletion. In patients with clinical features of spinal muscular atrophy and no deletions in the survival motor neuron gene, mitochondrial DNA depletion should be considered.

Biopsy↗
PubMedDate not supplied

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

Spinal muscular atrophies are a heterogeneous group of disorders. They differ in time of onset, clinical presentation, progression, severity and mode of inheritance. In 1985 a Dutch family was described with a dominant, non-progressive spinal muscular atrophy presenting at birth with arthrogryposis (MIM 600175). Linkage analysis was performed in this family. After having excluded the loci for Werdnig-Hoffmann's disease and for dominant distal spinal muscular atrophy with upper limb predominance, we were able to localise the gene to a 10 cM interval between the markers D12S78 and D12S1646 on chromosome 12q23-q24. Recently, dominant scapuloperoneal spinal muscular atrophy has been localised to an overlapping interval. However, the clinical appearances of scapuloperoneal spinal muscular atrophy and the present disorder make allelism unlikely. In 1994, a second Dutch family with a disorder similar to the present one was described. We excluded linkage to markers of the 12q23-q24 region in this family and thereby proved genetic heterogeneity of this type of dominant, congenital and nonprogressive spinal muscular atrophy.

Chromosome Mapping↗
PubMed1971

Characteristic clinical findings in some neurogenic myopathies and in some myogenic myopathies causing muscular weakness, hypotonia and atrophy in infancy and early childhood.

Some conditions causing neurogenic or myogenic myopathy are reviewed and illustrated by cases of 1) perinatal cervical cord injury; 2) various types of progressive spinal muscular atrophy and 3) congenital muscular dystrophy, Duchenne-like type of muscular dystrophy, limb-girdle type of muscular dystrophy. All the cases of muscular dystrophy described here occurred in girls.

Adolescent↗
PubMed1981

[Progressive bulbar paralysis in childhood with pyramidal signs (author's transl)].

We report on a 8 year-old boy who presented with progressive bulbar paralysis. Remarkable were the presence of pyramidal signs, the visual disturbances, the peculiar gait and the intermittent progression of the disease. Our case supports the idea that spinal muscular atrophies form a group of diseases with variable expression. We can classify our patient between the juvenile form and the adult form of spinal muscular atrophy with progressive bulbar palsy. We could follow this boy for almost 4 years. He died at the age of twelve years. Post mortem examination was not permitted.

Bulbar Palsy, Progressive↗
PubMed2002

Cervical myelopathy due to a "tight dural canal in flexion" with a posterior epidural cavity.

A 41-year-old man noticed weakness and atrophy in his right hand and forearm resembling the non-progressive juvenile muscular atrophy of unilateral upper extremity (Hirayama's disease). MRI showed an abnormal cavity in the posterior epidural space which appeared on neck flexion communicating with the subarachnoid space in addition to the flattening of the lower cervical spinal cord on neck flexion. When evaluating atypical cases of Hirayama's disease, the pathomechanism demonstrated in the present case should be taken into consideration.

Adult↗
PubMed1994

Dysphagia in postpolio patients: a videofluorographic follow-up study.

In patients with a history of acute paralytic poliomyelitis (APP), late progressive muscle weakness may arise, known as the progressive postpoliomyelitis muscular atrophy (PPMA). In 43 patients with PPMA, 8 were evaluated for recent or late progressive dysphagia. The mean interval between APP and onset of swallow symptoms was 27.1 years (range 23-45); the mean age of the patients was 45.4 years (range 35-52). Initial videofluorography showed signs of slight-to-moderate oropharyngeal dysfunction in 6 patients (delayed swallow reflex, diminished peristalsis of constrictor pharyngeus muscle, diminished laryngeal elevation, retention of bolus). In 2 patients, no abnormalities were found. Seven patients were reexamined after 12-36 months (mean 18). All reported subjective progression of symptoms. Videofluorography showed minor changes in 1 patient and unaltered findings in 6. No signs of aspiration were found either clinically or by video. We conclude that patients with PPMA complaining of late dysphagia do not show a significant loss in oropharyngeal function on 1-3 years follow-up.

Adult↗
PubMedDate not supplied

Association of progressive myoclonic epilepsy and spinal muscular atrophy.

It is well known that certain hereditary diseases of the nervous system sometimes occur concurrently within particular families. This report presents a Yugoslav family of Hungarian origin in whom 2 brothers had progressive myoclonic epilepsy and proximal weakness and atrophy of muscles. Electromyography and muscle biopsy confirmed neurogenic atrophy. Electroencephalography disclosed paroxysmal spike-and-wave and polyspike-and-wave complexes with photic-induced myoclonic jerking. The combination of these clinical features is extremely rare and probably constitutes a clinical syndrome that has not been reported previously.

Adolescent↗