Hereditary Proximal Spinal Muscular Atrophy Biochemical Investigations

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Abstract
Four cases of hereditary proximal spinal muscular atrophy pertaining to 2 families are reported. The neurogenic character of the atrophy was demonstrated in all cases by EMG and muscle biopsy. Biochemical investigations showed a normal glucose tolerance in 2 cases and a low tolerance for glucose with diabetic curves in the other 2 cases. Glucose A-V difference from the forearm muscles and measurements from the venous blood for lactic acid, pyruvic acid, inorganic P, K and aldolase were normal in all cases. Serum electrophoresis revealed an increase in alpha1- and alpha2-globulins with low values of gamma-globulins in all cases. Hypogammaglobulinemia was likewise observed in 2 healthy siblings belonging to the 1st family. The 1st 2 patients presented an increase of non heminic iron.