| Main clinical features
|
muscular dystrophy with onset of progressive muscle weakness in early childhood; almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures, associated with contractures, scoliosis, spinal rigidity, microcephaly, hyperlaxity in finger joints, intention tremor, seizures, or hypogonadism
delayed motor milestones, hypotonia with muscle weakness and atrophy affecting the proximal muscles more than the distal muscles, and the lower limbs more than the upper limbs, resulting in gait difficulties, and most patients became wheelchair-bound in adulthood
muscle MRI revealed progressive degenerative myopathy |