Dados do Trabalho

Título

SPINAL MUSCULAR AMYOTROPHY OF LOWER LIMB PREDOMINANCE - SMALED1: CASE REPORT.

Apresentação do caso

Male patient, 1 year old, born and resident in Maranhão. Mother reported reduced fetal movement, after birth some dysmorphisms were identified such as deformity in the lower limbs, characterized by arthrogryposis, bilateral congenital clubfoot, bilateral congenital dislocation of the hip and fracture of the right femur perceived on the fifth day of life. During development, generalized hypotonia and significant motor delay were noticed, predominantly affecting the lower limbs. The evaluation identified blue sclera, hyperelasticity mainly of the upper limbs, batrachian posture, osteotendinous and plantar cutaneous reflexes not obtained, bilateral congenital clubfoot, without apparent sensory and cranial nerve changes.
A complementary workup was carried out with the collection of a panel for neuromuscular diseases with evidence of a mutation in the DYNC1H1 gene, indicative of Predominant Lower Limb Spinal Muscular Amyotrophy (SMALED1) of autosomal dominant inheritance.

Discussão

A small portion of muscle atrophies (AME) is not related to the 5q13 locus, so it is called non-5q AME. These forms represent a group of different genetic and clinical features, so they are classified by their inheritance pattern and by the distribution of muscle weakness (proximal, distal or bulbar). As for the case of the patient with SMALED1, the clinical picture generally starts in infants and is characterized by weakness predominantly in the lower limbs with early deformities and delay, especially in the sitting and gait milestones, in some cases hyperelasticity has been observed in limbs. superior, it is important to consider the differential diagnosis with diseases related to collagen mutation, but sparing the spine, without significant scoliosis.

Comentários finais

We considered the case of interest for exposure, considering the confirmed diagnosis of non-5q SMA is less common when compared to those related to the classic 5q13 locus and the importance of disseminating knowledge about cases alike for the correct diagnosis and follow-up of these patients.

Referências (se houver)

Tratado de neurologia infantil / Marcelo Masruha Rodrigues, Luiz Celso Pereira Vilanova. - 1. ed. - Rio de Janeiro : Atheneu, 2017
SCOTO, M. et al. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology 84 February 17, 2015.

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Sem conflito de interesses.

Área

Doenças neuromusculares