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Charcot-Marie-Tooth Disease Type 2A1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A1

Presentation

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]

Musculoskeletal

  • Hyperlaxity

    Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Cap Myopathy AD,AR 100 27 of 27 TRIP4 Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory- Skin Abnormalities- Joint Hyperlaxity [igenomix.es]

Neurologic

  • Tremor

    Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form. [ncbi.nlm.nih.gov]

    Myopathy- Abnormal Genitalia Syndrome X,XR,G 99.98 NA of NA MUSK Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 95.58 23 of 25 MYBPC1 Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor [igenomix.es]

  • 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]

  • Lower Motor Neurone Lesion

    Steppage gait MedGen UID: 98105 •Concept ID: C0427149 • Finding An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. [ncbi.nlm.nih.gov]

  • Abnormal Gait

    Steppage gait MedGen UID: 98105 •Concept ID: C0427149 • Finding An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. [ncbi.nlm.nih.gov]

Treatment

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]

Etiology

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]

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