No abstract available.
Muscular Atrophy*

No abstract available.
Diagnosis ; Extremities ; Muscular Atrophy

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

No abstract available.
Muscular Atrophy, Spinal* ; Spinal Muscular Atrophies of Childhood*

No abstract available.
Muscles ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Spinal Curvatures

No abstract available.
Humans ; Muscular Atrophy, Spinal ; Phenotype

Humans ; Muscular Atrophy, Spinal/therapy*

Consensus ; Humans ; Muscular Atrophy, Spinal/therapy* ; Spinal Muscular Atrophies of Childhood

No abstract available.
Hypopigmentation* ; Muscles* ; Muscular Atrophy* ; Subcutaneous Fat*

In the evaluation of vascular lesions, MR can be used to distinguish slow- from high-flow lesions on the basis of the observed spin-echo MR signal characteristics. MR imaging can also represent features of the static tissues of the vascular lesions that are composed of fibrofatty components, as well as thromboses, phleboliths and muscle atrophy. This paper illustrates the MR findings of various vascular lesions, correlating them with the pathologic specimen and emphasizing on the static tissues.
Magnetic Resonance Imaging* ; Muscular Atrophy ; Thrombosis