Key result
Whole exome sequencing confirms LGMD3 and LGMD4 in two young girls with proximal muscle weakness.
Case Report (n=2)
No
Clinical evaluation combined with EMG, CPK levels, and genetic testing can confirm the diagnosis of limb girdle muscular dystrophy in young patients presenting with proximal muscle weakness.
Supports targeted genetic testing in select weakness cases; leaves open generalizability and therapeutic implications.
Limb girdle muscular dystrophy (LGMD) presents with weakness and wasting of muscles, initially appear at proximal group of pelvic and shoulder girdles and inherited by an autosomal recessive disorder mainly and rarely autosomal dominant trait. We report two young girls of limb girdle muscular dystrophy (LGMD), who presented with gradual onset of weakness in proximal muscle of all four limbs. There was positive family history in one girl. Neurological examination revealed pseudo hypertrophy of both calves, hypotonia in all four limbs, muscle power diminished, more on proximally. All deep tendon reflexes were diminished with planters bilateral flexors. Gower sign was positive and winging of scapula was also present. Electromyography (EMG) showed myopathic pattern. Both had elevated creatinine phosphokinase levels and finally genetic study confirmed the diagnosis. J Enam Med Col 2020; 10(3): 190-194
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Islam et al. (2022) conducted a case report in Limb Girdle Muscular Dystrophy (n=2). Clinical and genetic evaluation was evaluated. Two young girls presenting with proximal muscle weakness were diagnosed with autosomal recessive limb girdle muscular dystrophy (LGMD3 and LGMD4) confirmed by whole exome sequencing.
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