Case presentation This 12-year-old Italian girl with an unremarkable family and prenatal history presented bilateral congenital talon-valgus-pronated clubfoot at birth and slight neuromotor developmental delay from the age of 18 months. [bmcmedgenomics.biomedcentral.com]

Brain atrophy MedGen UID: 1643639 •Concept ID: C4551584 • Disease or Syndrome Partial or complete wasting (loss) of brain tissue that was once present. [ncbi.nlm.nih.gov]

• Myopathy

  With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset AD,AR 97.63 733 of 746 SCN4A Congenital [igenomix.es]

• Strabismus

  Strabismus MedGen UID: 21337 •Concept ID: C0038379 • Disease or Syndrome A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. [ncbi.nlm.nih.gov]

  The brothers showed microcephaly, strabismus and syndactyly at a young age. All 3 suffered progressive distal lower extremities weakness at around 10-20 years of age eventually resulting in immobility for the older 2 patients. [cags.org.ae]

• Incontinence

  [from SNOMEDCT_US] From HPO Urinary incontinence MedGen UID: 22579 •Concept ID: C0042024 • Finding Loss of the ability to control the urinary bladder leading to involuntary urination. [ncbi.nlm.nih.gov]

  Patients also showed facial weakness, absent reflexes, distal sensory impairment, ophthalmoplegia, dysarthria and urinary incontinence. MRI revealed brain atrophy in all 3 patients. [cags.org.ae]

• Urinary Incontinence

  [from SNOMEDCT_US] From HPO Urinary incontinence MedGen UID: 22579 •Concept ID: C0042024 • Finding Loss of the ability to control the urinary bladder leading to involuntary urination. [ncbi.nlm.nih.gov]

  Patients also showed facial weakness, absent reflexes, distal sensory impairment, ophthalmoplegia, dysarthria and urinary incontinence. MRI revealed brain atrophy in all 3 patients. [cags.org.ae]

• Areflexia

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

  The disease can also result in distal sensory impairment, areflexia and facial weakness. Nerve conduction velocities are markedly reduced and nerve biopsies may show depleted myelinated axons or focally folded myelin. [cags.org.ae]

• Dysarthria

  Patients also showed facial weakness, absent reflexes, distal sensory impairment, ophthalmoplegia, dysarthria and urinary incontinence. MRI revealed brain atrophy in all 3 patients. [cags.org.ae]

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]

Hereditary motor and sensory neuropathies: understanding molecular pathogenesis could lead to future treatment strategies. Biochim Biophys Acta. 2015;1852(4):667–78. [bmcmedgenomics.biomedcentral.com]

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]