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

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

Biomarkers ; Humans ; Muscular Atrophy, Spinal/genetics*

Hypertrophy of the calves has been described in spinal muscular atrophy (SMA) syndrome. Pearn and Hudgson described a new spinal muscular atrophy syndrome characterized adolescent onset, gross hypertrophy of the calves, and a slowly progressive clinical course. We saw a 16-year-old female who had weakness of the thighs with atrophy and hypertrophy of calfmuscles. The patient was studied with EMG and muscle biopsy and thought to be as SMA with hypertrophied calf-muscles.
Adolescent ; Atrophy ; Biopsy ; Female ; Humans ; Hypertrophy* ; Muscular Atrophy, Spinal* ; Thigh

PURPOSE: The aim of this study was to describe the dynamic changes of the cervical dural sac and the spinal cord during neck flexion in patients suffering from Hirayama's disease and to present the usefulness of flexion MR study for the diagnosis. MATERIALS AND METHODS: Seven consecutive male patients (age ranging 17-43 years, mean age 23.7 years) with the clinical diagnosis of Hirayama's disease and 5 healthy subjects (aged 25-32 years) for controls had done cervical MRI from January 2001 through June 2002. Cervical MRI was done in neutral and neck flexed positions using 1.5 T system (Sonata, Siemens, Germany) and obtained images were reviewed by two radiologists. We compared the cervical MRI findings of 7 patients with those of 5 healthy controls regarding neck flexion induced changes in the lower cervical segments. RESULTS: Neutral positioned cervical sagittal MR images revealed subtle or mild cord atrophy in only 2 patients. On maximal neck flexion, AP diameter of the cresent posterior epidural space was increased and also cord flattening with anterior shifting of posterior wall of the lower cervical dural canal was noted in all 7 patients. In all 7 cases, the level and side of spinal cord changes corresponded to the clinical phenotype. All control subjects showed neither cord flattening nor widening of posterior epidural space on neck flexion. CONCLUSION: In patients with the clinical diagnosis of Hirayama's disease, MRI scans obtained on maximal neck flexion showed characteristically dynamic flattening of lower cervical cord and widening of posterior epidural space. Therefore, a flexion MR study is needed to prove the diagnosis.
Atrophy ; Diagnosis ; Epidural Space ; Humans ; Magnetic Resonance Imaging* ; Male ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Neck ; Phenotype ; Spinal Cord ; Spinal Muscular Atrophies of Childhood* ; Upper Extremity*