A case of spinal muscular atrophy type 1 in a Filipino infant
Acta Medica Philippina
;
: 63-65, 2011.
Article
in English
| WPRIM
| ID: wpr-631851
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Spinal Cord Diseases
/
Muscular Atrophy, Spinal
/
Muscular Atrophy
/
Central Nervous System Diseases
/
Neuromuscular Manifestations
/
Nervous System Diseases
/
Neurologic Manifestations
Limits:
Infant
Language:
English
Journal:
Acta Medica Philippina
Year:
2011
Type:
Article
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