A case of spinal muscular atrophy type 1 in a Filipino infant

ABSTRACT

We present a case of a 7-month-old Filipino who manifested with generalized muscle atrophy and areflexia. She had weak gag reflex and tongue fasciculations. She eventually developed feeding difficulty and recurrent pneumonia. Laboratory work-up showed a slightly elevated serum creatinine kinase (CK) and myopathic changes on electromyography and nerve conduction velocity (EMGNCV) studies. Genetic study confirmed that the patient was homozygous for deletions on exons 7 and 8 of the survival motor neuron (SMN) 1 gene. Carrier testing on both parents revealed that only the mother was a confirmed carrier of the SMN1 gene deletion. The challenges for genetic counseling in this case are discussed.