Available online 26 September 2022

Amyotrophic Lateral Sclerosis

Motor Neuron Disease

Medical Research Council

Next-generation Sequencing

Spinal Muscular Atrophy

SMA with lower extremity predominance

Dear Editor,

A 36-year-old Brazilian man presented with a slowly progressive history of weakness and painful cramps in his lower limbs since age 22 years. After 8 years of symptom-onset, he noted mild amyotrophy involving the distal portion of the thighs and calves, slow gait speed, and waddling gait. Medical and

The authors declare that they have no competing interest.

The authors have nothing to disclose regarding supports for the work related to drugs, grants or equipments. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Full consent was obtained from the patient for this manuscript. This study was approved by our Institutional Ethics Committee (CEP-UNIFESP/HSP – protocol number 0956/2018). All authors approved the final version of this manuscript.

WBVRP participated in conception and design of study, acquisition and analysis of data, and writing of the first draft. PVSS participated in conception and design of study, acquisition and analysis of data, and participated in the writing of the first draft. BMLB participated in conception and design of study, and acquisition of data. IBF participated in conception and design of study, and acquisition and analysis of data. MATC participated in conception and design of study, and acquisition of

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