ABSTRACT
We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous
Subject(s)
Humans , Female , Child, Preschool , Contracture/congenital , Marfan Syndrome/genetics , Contracture/complications , Exons , Marfan Syndrome/complications , Muscular Atrophy/complications , Muscular Atrophy/congenital , Muscular Atrophy/pathologyABSTRACT
We report a family with three generation affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or cold muscle sparms may apprear. The gene is expressed with differing intensity in each individual. Myopathic electro myographic alterations are only found in fuctionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers