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Results for “Muscular Atrophy, Spinal”

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At least 1,135 records · Page 63Linked to original sources
PubMed1994

Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms.

Two siblings presented with identical features of progressive peripheral paralysis of the lower motor neuron type, pyramidal signs, cranial nerve palsy which included external ocular palsy and deafness, and internal ocular palsy; both died before 1 year of age. Pathologic examination of the central nervous system in both patients revealed degeneration and loss of spinal and cranial nerve motor nuclei, including the oculomotor nucleus. In addition, there was degeneration of the Edinger-Westphal nuclei and demyelination of the corticospinal tract under the midbrain. Although spinal cord lesions were indistinguishable from those of Werdnig-Hoffmann disease, the 2 patients are not considered to have Werdnig-Hoffmann disease from the clinicopathologic findings.

Brain↗
PubMedDate not supplied

Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.

A female child of healthy parents developed rotary nystagmus at the age of 15 months. Ophthalmoscopy disclosed incomplete optic atrophy. Blood tests, EEG and CT scans were normal. At 20 months progressive muscular weakness and wasting with limb-girdle distribution commenced, followed later by disturbance of gait. From muscle and nerve biopsy the diagnosis of a peripheral neuropathy with neurogenic muscular atrophy was made. No mental change occurred. At 23 months she sustained cardiac arrest and was resuscitated; thereafter, she remained in a vegetative state and expired 9 months later. Her brain was markedly atrophic and firm. Diffuse old ischemic necroses and neuronal loss with gliosis were found in the cortex, the neostriatum, the thalamus, parts of the lower brainstem, and the cerebellum. Her optic nerves and tracts showed complete atrophy. The spinal cord exhibited degeneration and loss of motor neurons with cervical accentuation. The intermediolateral nuclei, the dorsal nuclei and the spinal ganglia were also involved. There was demyelination of the posterior funiculi, the pyramidal tracts, and the sciatic, peroneal, sural, and superior frontal nerve. The voluntary muscles exhibited large group atrophy with liposclerotic change and limb-girdle predominance. The neck, tongue and ocular muscles were also involved, as were, to a less extent, the lower limbs. Although the loss of motor neurons in the spinal cord and at the bulbar level with the typical pattern of neurogenic muscular atrophy, as well as its distribution, resemble the facioscapulo-humoral type of heredity motor neuropathy (HMN), early onset, rapid course, sensory and autonomic involvement, and atrophy of the optic nerve do not fit this or any one type of HMN.

Atrophy↗
PubMed2002

[Juvenile asymmetrical segmental spinal muscular atrophy].

We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of the upper extremity at the age of 17. Objective findings were 1) muscular atrophy of calf and forearm flexor muscles and intrinsic hand muscles; 2) fasciculations; and 3) hand tremor. EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative.

Adolescent↗
PubMed2000

Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy.

Hirayama's disease (HD) is frequently found in Asia, and is rarely referred among westerners. It affects young people with higher incidence in males. It is a focal distal amyotrophy with unilateral or asymmetric bilateral involvement of C7, C8 and T1 innervated muscles. HD appears sporadically and has a benign evolution with clinical stabilization in around one year. We report four young male patients with clinical and electrophysiological alterations described in HD, which were followed-up during 5 years. Electromyographic findings were indicative of lower motor neuron involvement. We analyzed cervical MRI aiming at understanding if a questionable spinal cord compression could be implicated in the pathogenesis, but no abnormality was verified. In view of its clinical, and EMG characteristics, HD is no more than a benign monomelic amyotrophy (BMA) clinical variant, and not a specific disease. This eponym could be considered only for the distal upper limb variant (Hirayama's variant) of the BMA.

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↗
PubMedDate not supplied

[An analysis of chimeric SMN genes--new possibilities in the study of the molecular genetic nature of mutations and in the diagnosis of spinal muscular atrophy (SMA)].

Results of analysis of chimeric SMN genes among some high SMA-risk families from Ukraine using the EcoRV and DdeI restriction enzyme hydrolysis of PCR products is presented. Chimeric cen/telSMN gene was detected in probands with homozygous deletions of telSMN exon 7 only, as well in proband with absent of homozygous deletion of exons 7 and/or 8 of the SMN gene. Effectivity of approach of detection of chimeric SMN genes based on the EcoRV and DdeI restriction enzyme analysis of PCR products and mechanisms of formation of chimeric SMN genes are discussed.

Base Sequence↗
PubMedDate not supplied

[A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine].

The results of DNA analysis of deletion in exons 7 and 8 of SMN gene, and exon 5 of NAIP gene in 24 SMA-families from Ukraine are presented. Deletions of SMN exons 7 and 8, or 7 were found in 46 (97.9%) of 47 SMA-chromosomes. A homozygous deletion of NAIP exon 5 was demonstrated in 4 (19%) of 21 SMA-families. The authors have demonstrated that in 2 SMA patients with homozygous deletion SMN exon 7 only, the remaining SMN exon 8 was a part of a chimeric CBCD41/SMN gene.

Adult↗
PubMed2004

Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene.

The patient was a 57-year-old Japanese man who gradually developed muscle atrophy and weakness in the trunk and limbs since the age of 20 years and was wheelchair bound at the age of 56 years. The gene copy number assay confirmed the combined homozygous deletion of the survival motor neuron (SMN) 1 and neuronal apoptosis inhibitory protein (NAIP) genes and showed the presence of 4 copies of the SMN2 gene. In this patient, the significant increase in the number of the SMN2 gene copies should compensate for the homozygous deletion of the SMN1 gene and make his disease milder despite the absence of the NAIP gene. Taken together with our previous data, we may reasonably hypothesize that the SMN2 gene copy number is more critical in determining the severity of the disease compared to the NAIP genotype.

Aged↗