Abstract Details Title Charcot Marie Tooth Disease Type 2Q with DHTKD1 Mutation- A Report of the First Case from India Topic General Neurology Presentation(s) P5 - Poster Session 5 (8:00 AM-9:00 AM) Poster/Presentation Number 6-009 Objective Our patient is a 15-year-old adopted male child, who presented with gait difficulty for the past 6 months. He had gait abnormality in the form of lifting both feet higher than usual. He had symmetrical distal muscle weakness in lower limbs, pes-cavus and absent bilateral ankle reflexes. He was evaluated with NCS and EMG. His Nerve conduction study was suggestive of motor more than sensory axonal peripheral neuropathy in lower limbs. The EMG study of the patient showed fasciculations, reduced recruitment and neurogenic interference pattern. Clinically and electro-physiologically the diagnosis was consistent with CMT2. Genetic panel for CMT was done by targeted sequencing analysis, which revealed the diagnosis of CMT2Q, caused by heterogeneous mutation in exon 13 of the DHTKD1 gene on chromosome 10. Background CMT disease is a group of hereditary motor sensory neuropathies with significant heterogeneity. CMT can be divided into two major phenotypic types: A demyelinating form (CMT type 1) and axonal form (CMT type 2). Until now, mutations in 15 unique genes have been identified causing CMT2. CMT2Q is a rare subtype of autosomal dominant CMT disease type 2. It is characterised by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy. It is associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderate deep sensory impairment. DNA-sequencing analysis revealed a nonsense mutation in exon 8 of (DHTKD1) in the affected individuals. Design/Methods NA Results NA Conclusions CMT2Q (OMIM614984), a rare subtype of CMT2 was first discovered by Xu et.al in a five-generation Chinese family in 2012. This is the subsequent and the first case to be reported from the Indian population.Heterozygous nonsense mutation in DHTKD1 gene is the causative genetic alteration for CMT2Q and it has an important role in mitochondrial energy production and neuronal development. Authors/Disclosures Hemanth Kumar K (Srm Medical College) PRESENTER No disclosure on file