Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report

Abstract

Background Spinal muscular atrophy is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy and even paralysis. Spinal muscular atrophy usually associated with a defect of the survival motor neuron 1 (SMN-1) gene. Classification of spinal muscular atrophy is based on the age of onset and maximum motor function milestone achieved. Although spinal muscular atrophy can be screened for in newborns, and even confirmed earlier genetically, this remains difficult in Third World countries such as Indonesia. Case presentation A 28-year-old Asian woman in the first trimester of her second pregnancy, was referred to the neurology department from the obstetric department. Her milestone history showed she was developmentally delayed and the ability to walk independently was reached at 26 months old. At 8 years old, she started to stumble and lose balance while walking. At this age, spinal muscular atrophy was suspected because of her clinical presentations, without any molecular genetic testing. She was married at the age of 25 years and was soon pregnant with her first child. At the gestational age of 32 weeks, her first pregnancy was ended by an emergency caesarean section because of premature rupture of the membranes. In this second pregnancy, she was referred early to the general hospital from the district hospital to receive multidisciplinary care. She and her first daughter underwent genetic testing for spinal muscular atrophy, which has been readily available in our institution since 2018, to confirm the diagnosis and prepare for genetic counseling. Conclusions Managing pregnancy in a patient with spinal muscular atrophy should be performed collaboratively. In this case, genetic testing of spinal muscular atrophy and the collaborative management of this patient allowed the clinical decision making and genetic counseling throughout her pregnancy and delivery.

Habilitation of Child with Spinal Muscular Atrophy Type 2: A Case Report

“…1 The incidence of SMA is approximately 1 in 11,000 live births, and the prevalence is 1-2 persons per 100,000 worldwide. 2,3 There is currently no official national report on the incidence and prevalence of SMA in Indonesia. 3 The SMA community in Indonesia reported that 65 persons had been diagnosed with SMA in Indonesia.…”

“…2,3 There is currently no official national report on the incidence and prevalence of SMA in Indonesia. 3 The SMA community in Indonesia reported that 65 persons had been diagnosed with SMA in Indonesia. This disease is an incurable genetic hereditary and an autosomal recessive disease (the disease can manifest in both boys and girls).…”