congenital muscular dystrophy 1B https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/muscular_dystrophy_congenital_1b MDC1B muscular dystrophy, congenital, 1B MEDGEN:346746 OMIM:604801 congenital muscular dystrophy type 1B GARD:0012586 SCTID:764944006 UMLS:C1858118 MESH:C565748 DOID:0110634 Orphanet:98893 CMD1B MONDO:0011486 Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. congenital muscular dystrophy