Nusinersen treatment in SMA type III: treating an adult patient

INTRODUCTION/OBJECTIVES: Spinal muscular atrophy (SMA) is a rare disorder which presents as a loss of (spinal) lower motor neuron with consequential muscular atrophy. It is caused by absence of SMN1 gene on chromosome 5 due to exon 7, or additionally exon 8, deletion. Presence or absence of SMN2 and NAIP genes determine the severity and time of onset of the disease. SMA is divided in 5 types ranging from 0 to 4 with 0 being the most severe with the earliest time of onset and 4 being the mildest with the latest time of onset

Trevor disease

Trevorova bolest, poznata i kao dyspasia epiphysialis hemimelica (DEH) rijetka je nenasljedna bolest koja zahvaća epifize dugih kostiju te histološki nalikuje na osteohondrom. Opisana incidencija bolesti je 1:1000000, a neki autori navode kako je incidencija vjerojatno i veća, ali se slučajevi pogrešno klasificiraju kao osteohondromi i slični entiteti. Smatra se bolešću dječje dobi, iako postoje sporadični slučajevi ove bolesti u odraslih osoba. Glavno patološko zbivanje u Trevorovoj bolesti jest bezbolna koštana izraslina koja zahvaća dio zgloba, lokalizirano uz epifizu jedne ili obje zglobne kosti. Izraslina je najčešće smještena u gležnju, koljenu ili kuku. U nekih pacijenata pristune su multiple koštane izrasline, bilo na istom ili različitim udovima. Trenutno nisu poznati okolišni i genetski čimbenici bolesti te su mjereni parametri u Trevorove bolesti potpuno jednaki vrijednostima pronađenima u zdravom tkivu. U literaturi nema opisanih slučajeva maligne alteracije. Pri dijagnostici bolesti ključno je tražiti znakove Trevorove bolesti, a oni su asimetrija, smanjena pokretljivost i deformitet zgloba. Nakon pronalaženja istih, koristi se jednu ili više radioloških tehnika od kojih su najkorisniji rendgenogram, kompjuterizirana tomografija i magnetska rezonancija. Po vizualizaciji lezije, odabire se terapijski pristup koji, ovisno o radiološkom i kliničkom nalazu, može biti konzervativne ili kirurške naravi. Uz ranu dijagnozu i tretman moguće je izbjeći komplikacije poput invaliditeta uzrokovanog neadekvatnom mehanikom zglobova ili osteoartritisa. Oporavak je nakon tretmana relativno brz, s jednim od opisanih slučajeva oporavka od samo 28 dana. Obzirom na pedijatrijsku dob oboljelih, plastičnost skeletalnog sustava uvelike doprinosi dobrim rezultatima i brzini oporavka.Trevor disease, also known as dysplasia epiphysialis hemimelica (DEH) is a rare non-hereditary disease affecting the epiphyses of long bones. Histologically, it resembles osteochondromal tissue. Described incidence rate of the disease is 1:1000000, with some authors claiming higher incidence rate in reality due to probably misdiagnosed cases classified as osteochondromas or other similar entities. It is considered a disease of pediatric age population, even though there are sporadic cases of the disease among adults. The main pathological finding in Trevor disease is a painless bone growth affecting a part of the joint, localized along the epiphysis of one or both articular bones. The growth is commonly found in the ankle, the knee or the hip. In some patients, multiple bone growths are present, either along the same or different limbs. Currently, there are no known envirnomental and genetic factors with measured parameters in Trevor disease being completely equal to the values found in healthy tissue. There are no described cases of malignant alteration in the literature. Diagnostic-wise, it is crucial to look for the signs of Trevor disease – asymmetry, impaired mobility and joint deformity. After finding those signs, one or more radiology tehniques are used with the most useful being x-ray, computerized tomography and magnetic resonance imaging. After the lesion is visualized, a thearapeutic approach is chosen, either conservative or surgical, depending on both radiological and clincal findings. With early diagnosis and treatment it is possible to avoid complications like disability caused by impaired mobility of the joint or osteoarthritis. Recovery after the treatment is relatively fast, with one of the described cases stating only 28 days. Considering the pediatric age of the affected, plasticity of the skeletal system greatly contributes to the good results and fast recovery time