Other inherited neuromuscular conditions

Our research interests often span diseases and encompass a wide range of inherited neuromuscular conditions. Conditions such as DMD and myotonic dystrophy affect hundreds of individuals in Canada, but there are at least another 400 genetically distinct neuromuscular diseases that affect smaller numbers of people. These include mitochondrial myopathies, myofibrillar neuropathies, congenital muscular dystrophies, limb-girdle muscular dystrophies, inherited neuropathies, metabolic myopathies and other complex neurological conditions. Most of these conditions do not have effective therapies, and many families lack a definite molecular diagnosis.

Hanns sees patients with all forms of neuromuscular disease in clinic. Our team’s research into those other less frequent neuromuscular diseases ranges from gene discovery and the elucidation of the underlying pathogenesis to the development of new therapeutic approaches.

Image of stained muscle sections using different staining techniques

Relevant publications

Polavarapu, K, O'Neil, D, Thompson, R, Spendiff, S, Nandeesh, B, Vengalil, S et al.. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord. 2024.39 10-18 PMID:38669730

Della Marina, A, Hentschel, A, Czech, A, Schara-Schmidt, U, Preusse, C, Laner, A et al.. Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes. J Neuromuscul Dis. 2024.11 (3)625-645 PMID:38578900

Ferreira, T, Polavarapu, K, Olimpio, C, Paramonov, I, Lochmüller, H, Horvath, R et al.. Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. J Neurol. 2024.271 (6)3546-3553 PMID:38549004

O'Connor, K, Spendiff, S, Lochmüller, H, Horvath, R. Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease. Int J Mol Sci. 2023.24 (10) PMID:37239850

Roos, A, van der Ven, PFM, Alrohaif, H, Kölbel, H, Heil, L, Della Marina, A et al.. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. Brain. 2023.146 (10)4200-4216 PMID:37163662

McMacken, G, Whittaker, RG, Wake, R, Lochmuller, H, Horvath, R. Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment. J Neurol. 2023.270 (6)3112-3119 PMID:36869887

Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH et al.. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023.14 (1)1009 PMID:36823193

Wiessner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D et al.. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Am J Hum Genet. 2017.100 (3)523-536 PMID:28190456

Herrmann, DN, Horvath, R, Sowden, JE, Gonzalez, M, Sanchez-Mejias, A, Guan, Z et al.. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014.95 (3)332-9 PMID:25192047

Gempel, K, Topaloglu, H, Talim, B, Schneiderat, P, Schoser, BG, Hans, VH et al.. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 2007.130 (Pt 8)2037-44 PMID:17412732