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M Marolda

Publications and source records attributed to M Marolda.

21 records · Page 2Linked to original sources
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[Genetic, histochemical and ultrastructural study of a family with peculiar clinical expression of spinal muscular atrophy. Importance of biopsy examination in the detection of heterozygotes].

A clinical, histologic and ultrastructural study of a woman suffering for a slight form of spinal muscular atrophy and his heterozygotic husband is reported. The woman is daughter of kindred and her brothers have variable clinical manifestation of the disease. Therefore the genetic theory of the "three allels" is emphasized. The presence of histochemical changes in the muscular biopsy of the husband proposes the problem of the existence of tests for the heterozygosis in this disease.

Adult↗
PubMedDate not supplied

[Apropos of a case of myopathy with histologic and electrophysiologic findings of both a myogenic and neurogenic nature].

The authors describe the case of a 36 years old woman suffering from muscular weakness with proximo-distal distribution to legs, and proximal to arms. The disease, appeared during the third decade of life, is slowly becoming more serious. Hematochemical analyses are all within a normal standard; EMG and histopathologic findings prove the existence of both a protopathic and neurogenic trouble in studied muscles. A therapy based on prednisone (50 mg/die) and ACTH (1 mg each 5 days) for a fourty days period doesn't cause essential changes in symptomatology. A cousin (on her mother's side) of our patient suffers from probable "sporadic distal myopathy". The authors discuss if the disease, shown by this patient, may be considered as an atypical form of SDM or if, what appears more probable, it must be nosographically framed as "scapuloperoneal atrophy".

Adult↗