1.Clinical study on spinal muscular atrophies.
Soo Ahn CHAE ; Yong Seung HWANG
Journal of the Korean Pediatric Society 1992;35(12):1728-1736
No abstract available.
Muscular Atrophy*
2.Diagnosis of Muscular Atrophy of the Extremities
The Journal of the Korean Orthopaedic Association 1971;6(4):305-311
No abstract available.
Diagnosis
;
Extremities
;
Muscular Atrophy
3.Clinical profile of genetically confirmed Spinal Muscular Atrophy (SMA) Among Filipino children less than 18 years old
Lalaine B. Villaflor-Oida ; Raymond L. Rosales ; Ma. Antonia Aurora M. Valencia ; Michelle G. Sy ; Yuh-Jyh Jong
Journal of Medicine University of Santo Tomas 2023;7(1):1138-1143
Spinal muscular atrophy (SMA) is the most common inherited lethal disease in children. Confirmatory diagnosis is based on molecular genetic testing of survival motor neuron (SMN) genes. We aimed to describe the phenotypic presentation of Filipino infants and children with SMA based on the copy number analysis of SMN genes. Medical records of 17 Filipino children were reviewed from January 2017 to December 2019. De-identified clinical data fulfilled the diagnostic criteria defined by the International SMA Consortium.
Among Filipino children, the predominant SMA type by copy number was type I having two copies of SMN2 gene. The clinical severity based on symptom onset and highest functional motor capacity attained correlated with SMN2 copy number congruent with existing data. A significant time lag between symptom onset to confirmation of genetic diagnosis was noted. Nine out of the 17 (52%) children did not have a family history of the disease, raising the possibility of mutation carriers in these families since the incidence of de novo mutations in literature is about 2%.
These data offered the first epidemiological pattern of genetically confirmed SMA among Filipino children; provided additional information for genetic counselling; and an avenue to consider pre-symptomatic newborn screening and carrier testing that would change proactive measures and opportunities for therapy. These measures unavoidably will decrease the incidence and prevalence of disease in the future.
Muscular Atrophy, Spinal
4.Spinal Muscular Atrophy Type 2 in Siblings.
Jeong Sam JEON ; Dong Hub LEE ; Byung Soo CHO ; Sa Jun CHUNG ; Chang Il AHN
Journal of the Korean Pediatric Society 1989;32(5):718-723
No abstract available.
Muscular Atrophy, Spinal*
;
Spinal Muscular Atrophies of Childhood*
5.Camptocormia Due to Selective Paraspinal Muscle Atrophy.
Jong Won PAIK ; Suk Yun KANG ; Mi Ae KIM ; Young Ho SOHN
Journal of the Korean Neurological Association 2008;26(2):162-164
No abstract available.
Muscles
;
Muscular Atrophy
;
Muscular Atrophy, Spinal
;
Spinal Curvatures
6.A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2
Jin Mo PARK ; Hisahide NISHIO ; Jin Hong SHIN ; Jin Sung PARK
Journal of Clinical Neurology 2019;15(3):395-397
No abstract available.
Humans
;
Muscular Atrophy, Spinal
;
Phenotype
9.Hypopigmentation and subcutaneous fat, muscle atrophy after local corticosteroid injection.
Sun Kyung PARK ; Yun Suk CHOI ; Hyun Jung KIM
Korean Journal of Anesthesiology 2013;65(6 Suppl):S59-S61
No abstract available.
Hypopigmentation*
;
Muscles*
;
Muscular Atrophy*
;
Subcutaneous Fat*
10.Spinal muscular atrophy with open bite: A case report.
West China Journal of Stomatology 2013;31(3):315-316
Spinal muscular atrophy is one rare type of autosomal recessive disorder. The disease is characterized by the progressive degeneration of spinal cord anterior horn motor neurons and brainstem motor nuclei, which leads to muscle atrophy and paralysis. One case of spinal muscular atrophy with open bite was reported here.
Humans
;
Muscular Atrophy, Spinal
;
Open Bite
Result Analysis
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