Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. [ncbi.nlm.nih.gov]

Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle and Nerve (2018). doi:10.1002/mus.25981 Kalaydjieva, L. et al. [mda.org]

• Constitutional Symptom

  Stridor MedGen UID: 11613 •Concept ID: C0038450 • Sign or Symptom Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. [ncbi.nlm.nih.gov]

• Respiratory Insufficiency

  Respiratory failure MedGen UID: 257837 •Concept ID: C1145670 • Disease or Syndrome A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal [ncbi.nlm.nih.gov]

  Insufficiency, And Dysmorphic Facies, Fetal Akinesia Deformation Sequence AR 99.97 6 of 6 MYPN Nemaline Myopathy, Childhood-Onset Nemaline Myopathy AD,AR 99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental [igenomix.es]

• Diplopia

  Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. [ncbi.nlm.nih.gov]

• Muscular Atrophy

  Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. [ncbi.nlm.nih.gov]

  Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 139 of 147 STAC3 Native American Myopathy AR 99.98 5 of 5 [igenomix.es]

  Neuropathie:héréditaire motrice et sensorielle, types I-IV | hypertrophique de l'enfant | Syndrome de Roussy-Lévy Disease:Charcot-Marie-Tooth | Déjerine-Sottas | Hereditary motor and sensory neuropathy, types I-IV Hypertrophic neuropathy of infancy Peroneal muscular [wordscope.com]

  Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. Am. J. Hum. Genet. (2003). doi:10.1086/375039 Mersiyanova, I. V et al. [mda.org]

• Muscle Weakness

  Abnormality of limbs Foot dorsiflexor weakness Hammertoe Pes cavus Shoulder girdle muscle atrophy Abnormality of the genitourinary system Urinary urgency Abnormality of the musculoskeletal system Diaphragmatic weakness Distal amyotrophy Distal muscle [ncbi.nlm.nih.gov]

  weakness and atrophy (in particular of the peroneal group) SNOMEDCT-BE (disorder) / 763400005 SNOMEDCT-BE (in particular of the peroneal group) / 763400005 maladie de Charcot-Marie-Tooth autosomique dominante type 2N Autosomal dominant Charcot-Marie-Tooth [wordscope.com]

• Areflexia

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

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]

PMID: 29341343 Prognosis Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. [ncbi.nlm.nih.gov]

[…] respiratory system Intercostal muscle weakness Respiratory failure Stridor Abnormality of the voice Vocal cord paresis Constitutional symptom Urinary incontinence Ear malformation Sensorineural hearing loss disorder Growth abnormality Short stature Etiology [ncbi.nlm.nih.gov]

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]

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology (2016). doi:10.1159/000443706 Reilly, M. M. Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! [mda.org]