congenital myopathy with myasthenic-like onset https://www.malacards.org/card/congenital_myopathy_with_myasthenic_like_onset UMLS:C4706390 GARD:0021783 congenital myopathy with myasthenic-like onset Orphanet:424107 MONDO:0018528 Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. SCTID:763315005 MEDGEN:1642781 RYR1-related myopathy