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.

BACKGROUND: Excessive use of pesticides is known to cause neurotoxicity. Chronic effects of pesticide poisoning include neuropathy and tremors. AIM: This study aimed to determine the association between pesticide exposure and the occurrence of neurological signs and symptoms, especially neuropathy and tremor, in farmers. METHODS: This was a cross-sectional study. The study location was Seloprojo Village, Ngablak District, Magelang Regency, Central Java Province. Farmers as subjects were recruited to determine neuropathy using Diabetic Neuropathy Symptom (DNS) and Diabetic Neuropathy Examination (DNE) scoring. Tremor events were measured with Tremor Rating Scale (TRS). Cholinesterase levels were examined using venous blood samples to determine the level of pesticide poisoning. RESULTS: Of the 120 farmers studied, 68.3% experienced pesticide poisoning with cholinesterase levels below normal values. Weakness of the upper limb was found in 10 subjects (8.33%), while weakness of the lower limbs was found in 6 subjects (5%). There were 59.2% farmers who met the neuropathy criteria from the DNS score and those who met the neuropathic criteria from the DNE score were 6.7%. Tremor symptoms were found in 71.7% of the farmers. There was no significant association between cholinesterase levels and DNS score (p = 0.737), but there were significantly lower levels of cholinesterase (p = 0.046) in the neuropathy group measured with DNE score. There was no significant association between cholinesterase levels and TRS (p = 0.204). CONCLUSION: Cholinesterase levels were significantly associated with neuropathy incidence measured with DNE criteria but statistically not related to tremors in farmers exposed to pesticides.

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