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PubMed1990

[A case of senile onset rimmed vacuole myopathy with proximally dominant involvement].

A 73-year-old woman with progressive proximal-dominant muscular atrophy and weakness was described. She had been well until 70-year-old, when she found difficulty in standing up from sitting position. At age 72 years, she could not raise her arms. Neurological examination showed muscular wasting and weakness in the proximal parts of extremities, shoulder and pelvic girdle. In the thigh, the flexors and adductors were severely affected. Muscular weakness was also observed in m. tibialis anterior. Serum CK and aldolase were normal. Electromyography showed low voltage short duration motor unit potentials with positive sharp waves and fibrillations. Rimmed vacuoles were observed in 4.8% of muscle fibers in biopsy sample obtained from right m. quadriceps femoris. No inflammatory cells, PAS-positive materials and inclusion bodies were observed in the sample. This case differs from distal myopathy with rimmed vacuoles, because the onset was very late and her muscular weakness and atrophy was proximal dominant. This case also differs from inclusion body myositis, because muscle biopsy revealed no inflammatory cells or inclusion body.

Age Factors↗
PubMed1993

Kennedy's disease: clinical presentation and laboratory diagnosis.

Kennedy's disease is a form of progressive spinal and bulbar muscular atrophy of adult onset. This paper describes a case of Kennedy's disease and discusses the laboratory diagnosis and the underlying genetic mechanism. Three other neurological diseases, Huntington's disease, myotonic dystrophy and fragile X syndrome, which have similar genetic defects, are also discussed.

Aged↗
PubMed1997

[The structure of the diagnosis of neuromuscular diseases (the examination chart of outpatients for computer analysis)].

To provide a prophylactic medical examination (PME) as well as to improve the quality of diagnosis and treatment in a local medical institutions special coded card case sheets for patients with neuro-muscular disease adapted for computer analyzes are proposed. Such sheets facilitated determination of the diagnosis, objective patient's state during PME and correction of the scheme of therapy. The sheets were elaborated for long-term observation of 3153 patients with different neuro-muscular diseases and syndromes. The scheme of the diagnosis included such indices as character of damage of motor unit, type of heritability, age of onset of the disease, main systems of muscular atrophies, rate of the progress of pathological process, severity of the patient's state.

Ambulatory Care↗
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↗
PubMed1982

Muscle fiber type morphology and distribution in paraplegic patients with traumatic cord lesion. Histochemical and ultrastructural aspects of rectus femoris muscle.

Biopsies of the rectus femoris muscle of 22 paraplegic patients with complete acute spinal cord transection due to trauma were taken for enzyme-histochemical and electron-microscopic studies in successive stages starting from occurrence of the accident (1-17 months). Ingravescent muscular atrophy was demonstrated with a progressive decrease in the fiber diameter and changes in the fiber type distribution with predominant type II atrophy in the first stage and type I atrophy in the later stage of the cord transection. Muscular "neurogenic" changes, such as angular dark atropic fibers, targetoid fibers, and type predominance are frequently observed. Myopathic alterations are observed in a low percentage in the later stages of the lesion. The ultrastructural findings are characterized by myofibrillar alterations and by dilatation and proliferative phenomena of the sarcoplasmic reticulum and T-system. There are ingravescent accumulation of lipid, interstitial fibrosis and microcirculatory alterations. The possible mechanism of "central" muscle atrophy is reviewed and discussed with reference to the morphological findings.

Adolescent↗
PubMed1995

Autosomal dominant distal spinal muscular atrophy in four generations.

Distal spinal muscular atrophy is a rare lower motor neuron disorder that may be difficult to distinguish clinically from type II Charcot-Marie-Tooth disease. We report on clinical and pathologic findings in 13 members of a four-generation extended family with autosomal dominant distal spinal muscular atrophy. The patients developed a slowly progressive lower motor neuron disorder involving mainly the distal lower extremities; onset was from the second to fourth decades. Electromyography and muscle biopsy findings were indicative of motor denervation. Combined silver/cholinesterase/immunocytochemical staining of intramuscular nerve revealed abundant collateral axonal branching in mild disease but marked loss of terminal motor endplate innervation in the more severe state, suggesting decreased growth of motor axon collaterals with disease progression. Multipoint DNA linkage analysis showed that this family's disorder is not linked to the chromosome 5q11.2-13.3 spinal muscular atrophy locus.

Adolescent↗
PubMed2005

Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a fatal autosomal recessive disorder seen in infants. It is characterized by lower motor neuron degeneration, progressive muscle paralysis and respiratory failure, for which no effective treatment exists. The phenotype of neuromuscular degeneration (nmd) mice closely resembles the human SMARD1. The identification of the mutated mouse gene in nmd mice, Ighmbp2, led to the discovery of mutations of the homologous gene in humans with SMARD1. We have studied the nmd mouse model with in vivo electrophysiological techniques and evaluated the efficacy of Mab2256, a monoclonal antibody with agonist effect on the tyrosine kinase receptor C, trkC, on disease progression in nmd mice. Treatment with Mab2256 resulted in a significant but transient improvement of muscle strength in nmd mice, as well as normalization of the neuromuscular depression during high-frequency nerve stimulation. These results suggest the potential of using monoclonal agonist antibodies for neurotrophin receptors in lower motor neuron diseases such as SMARD1.

Animals↗
PubMed1992

[A mother and her son with autosomal dominant bulbar spinal muscular atrophy].

We reported a 49-year-old mother and her 28-year-old son with autosomal dominantly inherited bulbar spinal muscular atrophy (AD-BSMA). They showed progressive bulbar paresis, muscle wasting and weakness dominant in the proximal groups of limb muscles, and finger tremor. Onset of illness was in adult life. In laboratory examinations, elevated creatine kinase in serum and neurogenic changes either in EMG or muscle biopsy were noted. The son had neither gynecomastia nor abnormal sexual hormone levels which were observed in the sex-linked recessive bulbar spinal muscular atrophy (SR-BSMA). Elongation due to the CAG repeats at the androgen receptor gene of the X chromosome in SR-BSMA was not detected. In conclusion, it is clear that AD-BSMA is different from SR-BSMA on the basis of clinical and genetical aspects.

Adult↗