This can either be present in unilateral or bilateral form. Distal muscle weakness MedGen UID: 140883 •Concept ID: C0427065 • Finding Reduced strength of the musculature of the distal extremities. [ncbi.nlm.nih.gov]

• Epilepsy

  […] type 4B2, 604563 SCN10A 194.2 0.99 0.99 Episodic pain syndrome, familial, 2 615551 SCN11A 155 0.99 0.97 Episodic pain syndrome, familial, 3 615552 SCN11A 155 0.99 0.97 Neuropathy, hereditary sensory and autonomic, type VII, 615548 SCN9A 160.5 0.98 0.96 Epilepsy [qgenomics.com]

  Deficiency – 99.96 2 of 2 SLC18A3 Congenital Myasthenic Syndrome, Fetal Akinesia Deformation Sequence AR 99.97 5 of 5 SLC25A1 Congenital Myasthenic Syndrome AR 90 23 of 25 SLC35A3 Arthrogryposis, Mental Retardation, And Seizures, Autism Spectrum Disorder- Epilepsy-Arthrogryposis [igenomix.es]

• Pain

  […] syndrome, familial, 2 615551 SCN11A 155 0.99 0.97 Episodic pain syndrome, familial, 3 615552 SCN11A 155 0.99 0.97 Neuropathy, hereditary sensory and autonomic, type VII, 615548 SCN9A 160.5 0.98 0.96 Epilepsy, generalized, with febrile seizures plus, [qgenomics.com]

• Weakness

  Abnormality of limbs Foot dorsiflexor weakness Hammertoe Limb muscle weakness Pes cavus Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Facial palsy Abnormality of the nervous system Areflexia Axonal degeneration/regeneration [ncbi.nlm.nih.gov]

• Hyporeflexia

  Hyporeflexia MedGen UID: 195967 •Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]

• Areflexia

  Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]

• Polyneuropathy

  […] covered > 10x % covered > 20x Associated Phenotype description and OMIM disease ID AARS 144.7 0.99 0.99 Charcot-Marie-Tooth disease, axonal, type 2N, 613287 AARS 144.7 0.99 0.99 Epileptic encephalopathy, early infantile, 29 616339 ABHD12 114.9 0.97 0.91 Polyneuropathy [qgenomics.com]

Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]