• Developmental Delay

  Motor delay Delayed motor development, Retarded motor development, No development of motor milestones, Delayed early motor milestones, Motor retardation, Locomotor delay, Delay in motor development, Motor developmental delay, Motor developmental milestones [rarediseases.oscar.ncsu.edu]

  Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 [igenomix.es]

• Difficulty Walking

  Difficulty walking MedGen UID: 86319 •Concept ID: C0311394 • Finding Reduced ability to walk (ambulate). Distal muscle weakness MedGen UID: 140883 •Concept ID: C0427065 • Finding Reduced strength of the musculature of the distal extremities. [ncbi.nlm.nih.gov]

• Hand Deformity

  Abnormality of the hand Hand anomalies, Hand deformities, Abnormal hands [more] An abnormality affecting one or both hands. [rarediseases.oscar.ncsu.edu]

• Suggestibility

  Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy (summary by Sevilla et al., 2013). [ncbi.nlm.nih.gov]

• Limb Weakness

  Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. [ncbi.nlm.nih.gov]

  Medical Term Other Names Description Distal muscle weakness Distal paresis, Muscle weakness, distal limbs, due to neuronopathy, Distal muscular weakness, Distal limb weakness, Distal limb muscle weakness due to peripheral neuropathy, Weakness of outermost [rarediseases.oscar.ncsu.edu]

• Areflexia

  Areflexia Loss of deep tendon reflexes, Deep tendon reflexes absent, Absent tendon reflexes [more] Absence of neurologic reflexes such as the knee-jerk reaction. [rarediseases.oscar.ncsu.edu]

  There is distal sensory impairment, with pes cavus and areflexia. [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]

• Nerve Conduction Velocity Decreased

  Decreased nerve conduction velocity Decreased NCV, Reduced nerve conduction velocities, Delayed nerve conduction velocity, Slow nerve conduction velocity, Slowed nerve conduction velocities, Decreased nerve conduction velocities [more] A reduction in [rarediseases.oscar.ncsu.edu]

  Decreased motor nerve conduction velocity MedGen UID: 388130 •Concept ID: C1858729 • Finding A type of decreased nerve conduction velocity that affects the motor neuron. [ncbi.nlm.nih.gov]

• Slow Nerve Conduction Velocity

  Decreased nerve conduction velocity Decreased NCV, Reduced nerve conduction velocities, Delayed nerve conduction velocity, Slow nerve conduction velocity, Slowed nerve conduction velocities, Decreased nerve conduction velocities [more] A reduction in [rarediseases.oscar.ncsu.edu]

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]

AU711482B2 (en) * 1994-06-28 1999-10-14 Scotia Holdings Plc Compositions for treatment of diabetic complications FR2727117B1 (fr) * 1994-11-18 1997-02-21 IT1283967B1 (it) * 1996-03-29 1998-05-07 Sigma Tau Ind Farmaceuti Uso di l-carnitina o derivati [patents.google.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]

Methods of treating neurological diseases and etiologically related symptomology using carbonyl trapping agents in combination with previously known medicaments US5762922A (en) * 1994-01-31 1998-06-09 Ludwig Institute For Cancer Research Antioxidants [patents.google.com]

FR2912918A1 (fr) 2008-08-29 Utilisation d'acides gras polyinsatures et de flavonoides en tant qu'agents actifs dans une composition pour la prevention et/ou le traitement des cephalees. [patents.google.com]