has material basis in germline mutation in PLEKHG5 spinal muscular atrophy neuronopathy, distal hereditary motor, autosomal recessive 4 https://www.malacards.org/card/neuronopathy_distal_hereditary_motor_autosomal_recessive_4 neuronopathy, distal hereditary motor, autosomal recessive 4 A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. spinal muscular atrophy, distal, autosomal recessive, 4 DSMA4 GARD:0017101 OMIM:611067 autosomal recessive distal spinal muscular atrophy type 4 spinal muscular atrophy, distal, autosomal recessive, type 4 Orphanet:206580 autosomal recessive lower motor neuron disease with childhood onset MEDGEN:369682 dSMA4 MONDO:0012608 MESH:C567023 DOID:0111213 UMLS:C1970211 distal spinal muscular atrophy type 4 neuronopathy, distal hereditary motor, autosomal recessive