- Leigh syndrome (LS) is a mitochondrial neurodegenerative disease with an incidence of ∼1/40,000 live births .
- Myoclonus-dystonia caused by mutations in the SGCE gene is clinically characterized by early onset, myoclonus, and dystonia. Here we describe a family in which several members exhibit varying degrees of myoclonus and dystonia, caused by a novel heterozygous mutation in the SGCE gene.
- We report a Dystonia-Deafness syndrome patient treated by pallidal Deep Brain Stimulation with significant long-term benefits. Our study expands and confirms the complex phenotypic spectrum of ACTB gene-related disorders and supports the effectiveness of pallidal stimulation on motor outcomes and quality of life in dystonia due to ACTB p.Arg183Trp heterozygosity.
- The MICU1 gene encodes the mitochondrial calcium uptake 1 protein, an essential regulator of mitochondrial Ca2+ uptake and mitochondrial calcium homeostasis . Bi-allelic loss-of-function (LOF) variants in MICU1 are known to cause a rare, autosomal recessive neuromuscular disease, also termed ‘myopathy with extrapyramidal signs’ (MPXPS) (OMIM # 615673 ) . The clinical phenotype usually includes childhood-onset proximal weakness with increased serum CK and liver enzymes, developmental delay and intellectual disability.
- The thirteen-year-old girl was born to healthy non-consanguineous parents, after normal pregnancy and delivery. The patient had a history of hypotonia during the first months of life, with torticollis and plagiocephaly. She had a global motor delay and delayed speech and language development. On examination, the patient showed macrocephaly, short stature, synophrys, long palpebral fissures, thin upper lip vermilion, low-set ears, short neck, cubitus valgus, pes planus and valgus and brachydactyly.