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The collected specimen shows a huge accumulation of adipose and connective tissue, among which small tufts of normal fibers and extensive tufts of faint fibers characterized by the accumulation of nuclei within the fibrous fiber are visible. There is no division of fibers into metabolic types as assessed by the use of dehydrogenases. Single ATP activity until. Conclusions: the morphological image of the collected slice indicates a neurogenic defect.A biopsy performed twice involves the patient pointing to ailments associated with the lower limbs, which could indicate that the defect concerns innervation of the lower limbsDNA analysis ruled out the presence of a dual parallelic exon 7 deletion of the SMN1 gene - the most common mutation found in over 95% of patients with spinal muscular atrophy. The presence of two copies of the SMN1 gene in the quantitative study also does not confirm the suspicion of SMA caused by a point mutation in the SMN1 gene, coexisting with the deletion of the second allele. The obtained results exclude the suspicion of the classic form of spinal muscular atrophy associated with SMN1 gene mutations (except for the coexistence of two SMN1 point mutations, previously described in literature only once, in the Spanish population, in a related family). Genetic advice indicated
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Operational Program Digital Poland, 2014-2020, Measure 2.3: Digital accessibility and usefulness of public sector information; funds from the European Regional Development Fund and national co-financing from the state budget.