Oral SAM supplementation is presently set at 30 mg/kg/day. [ncbi.nlm.nih.gov]

• Disability

  CMTX4 (Cowchock syndrome) with deafness and intellectual disability resulting from mutation in AIFM1 [Cowchock et al 1985, Priest et al 1995, Rinaldi et al 2012]. CMTX6, resulting from mutation in PDK3. [ncbi.nlm.nih.gov]

  Neuropathy- Arthrogryposis Syndrome AR 100 2 of 2 ADGRG6 Lethal Congenital Contracture Syndrome AR 99.91 NA of NA AGRN Congential Myasthenic Syndrome AR 99.71 18 of 18 AIMP1 Hypomyelinating Leukodystrophy, Autosomal Recessive Non-Syndromic Intellectual Disability [igenomix.es]

• Pallor

  Optic neuropathy Fundoscopic examination shows bilateral optic disc pallor, indicating optic atrophy. Visual evoked potentials demonstrate delayed latency and decreased amplitudes of P100. Electroretinogram is normal. [ncbi.nlm.nih.gov]

Evaluation of Relatives at Risk It is appropriate to evaluate at-risk males at birth with detailed audiometry to assure early diagnosis and treatment of hearing loss. [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]

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]

[…] of Secondary Complications Daily heel cord stretching exercises are desirable to prevent Achilles’ tendon shortening from peripheral neuropathy, which can occur in individuals with CMTX5. [ncbi.nlm.nih.gov]