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.
Muscles ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Spinal Curvatures

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

Humans ; Muscular Atrophy, Spinal/therapy*

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

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: This study investigated the rate of retear and related factors after arthroscopic repair of rotator cuff tears involving more than one tendon. MATERIALS & METHODS: Arthroscopic repair of 22 rotator cuff tears (average size 3.2cm: average age 58 years old) involving the supraspinatus and part or all of the infraspinatus were investigated using MRI on average 10 months after repair. The status of the repaired cuff was investigated using Sugaya's classification, and the change in muscle was evaluated with Goutallier's classification. RESULTS: Retear (Sugaya grade IV, V) was found in 7cases(32%). Tears larger than 3cm had a higher retear rate(67%) than smaller tears(8%). Retear cases had Goutallier grade II or higher muscle changes preoperatively and showed aggravation of muscle atrophy postoperatively. Even without retear, reversal of muscle change was not seen CONCLUSION: Rotator cuff tears not confined to the supraspinatus had a 32% retear rate after arthroscopic repair. The size of the tear was the most crucial factor influencing retear. Retear was frequent in tear over 3cm. Atrophy of the cuff muscle worsened when the repair failed but did not improve even without retear.
Atrophy ; Follow-Up Studies ; Muscles ; Muscular Atrophy ; Rotator Cuff ; Tendons

The authors have studied 67 biopsy specimens of the levator muscle, obtained from the external levator resection for ptosis of 50 patients. Atrophy marking as 3+ and complete absence of the levator muscle fiber were predominating in the specimens of severe congenital ptosis or ptosis with poor levator funtion. The degree of levator muscle atrophy seemed to be related with levator function. Fibrosis and fatty infiltration of the levator muscle and Muller's muscle were examined frequently in the specimens with severe atrophy of muscle fibers. On histochemical detection of muscle fibers using ATPase stain, lightly stained Type I fibers of the levator muscle were larger in amount than darkly stained Type II fibers and atrophy of the two fibers was similar in degree. Muller's muscle fibers were evenly stained with positive ATPase reaction but slightly lighter than Type II fibers.
Adenosine Triphosphatases ; Atrophy ; Biopsy ; Fibrosis ; Humans ; Muscular Atrophy