Child Unable to Walk Without Support

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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Question
We have a 5 year old child. He started walking at around 1 yr of age but with an abnormal gait and continued to do so till 4 yrs of age though he was required to be made to stand(he was unable to get up on his own). Since 4 yrs age he is unable to walk without support, requires support and splints and knee cage to walk i.e progressive weakness involving the lower limbs. He has normal IQ, no h/o seizures. His investigations are 1)lactate, pyruvate, CPK all normal. 2) SMN and NAIP gene no deletions seen(Bombay hospital) 3)muscle biopsy(NIMHANS) S/O retarded maturation/arrest of the muscle fibers and compensatory change in the adjacent ones- SMA II 4) EMG NCV(Hinduja hosp) e/o diffuse motor axonopathy probably at the level of peripheral nerve. 5)ANA negative 6)Immunoglobulins normal. 7)Anti glycolipid antibody(Scotland)- normal 8)Hexosaminidase(KEM hosp)- normal. 9)heavy metals lead arsenic thallium and mercury all normal. 10)SMN 1 gene(sir gangaram hospital) no deletions seen on examination- there is no hypertrophy of the muscles. Fasciculation is seen in the tongue. Reflexes in the lower limbs are absent. What could be the diagnosis? Is it possible to have sma despite the SMN gene being normal? Dr. sachin damke.
Answer
Children with type II spinal muscular atrophy usually develop muscle weakness between ages 6 and 12 months. Children with type II can sit without support, although they cannot stand or walk unaided. Mutations in the SMN1 and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the course of spinal muscular atrophy.Mutations in the SMN1 gene cause spinal muscular atrophy types 0, I, II, III, and IV. About 95-98% of individuals with SMA are homozygous for the absence of exons 7 and 8 of SMN1 and about 2-5% are compound heterozygotes for absence of exons 7 and 8 of SMN1 and a point mutation in SMN1. Sequence analysis of all SMN1 exons and intron/exon borders may be used to identify the intragenic SMN1 mutations present in the 2-5% of individuals who are compound heterozygotes. The SMN1 and SMN2 genes are very large and exonic regions must be individually amplified; therefore, sequence analysis does not detect exonic deletions or duplications. Back to All Questions

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