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The PLEKHG5 gene encodes a protein that induces the nuclear factor kappa B (NFjB) signaling pathway. Biallelic pathogenic variants in PLEKHG5 have been linked to distal spinal muscular atrophy IV and intermediate axonal neuropathy. We present a six-year-old girl complaining of difficulties climbing stairs and getting up from crouching. Neurological examination revealed a symmetrical proximal limb weakness with milder distal weakness. While the patellar reflexes were absent, the biceps reflexes were hyporeflexic. Electromyography showed a mild denervation pattern in the proximal muscle groups with normal nerve conduction studies. MLPA in SMN1 showed no abnormalities. Exome sequencing revealed a homozygous missense variant in PLEKHG5 (c.1399G>A: NM_020631.4 [p.Glu467Lys]). Their unaffected mother and father were both carriers. [ABSTRACT FROM AUTHOR]