{"Name":"Congenital muscular dystrophy 1B","DiseaseID__c":"GARD:0012586","id":12586,"encodedName":"congenital-muscular-dystrophy-1b","IsDeleted":false,"Disease_Name_Full__c":"Congenital muscular dystrophy 1B","Xref_IDs__c":"764944006; C1858118; C565748; DOID:0110634; MEDGEN:346746; MONDO:0011486; OMIM:604801; ORPHA:98893","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011486","Disease_Description__c":"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.","GARD_Name__c":"Congenital muscular dystrophy 1B","GARD_Synonym__c":"cmd1b; congenital muscular dystrophy type 1b; mdc1b","Curated_Disease_Description_Source__c":"MONDO:0011486","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:98893","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011486","ORPHANET_ID__c":"ORPHA:98893","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular congénita tipo 1b","Spanish_Description_Source__c":"ORPHA:98893","Spanish_Description__c":"La distrofia muscular congénita tipo 1B es un trastorno neuromuscular genético poco frecuente, que se caracteriza por debilidad muscular proximal y simétrica (en particular músculos del cuello, esternocleidomastoideos, faciales y diafragmáticos), rigidez espinal, contracturas articulares (tendón de Aquiles, codos, manos), hipertrofia muscular generalizada e insuficiencia respiratoria temprana (generalmente en la primera década de vida). Los afectados suelen presentar retraso de las adquisiciones motoras y niveles de creatina quinasa sérica muy elevados, y con la progresión de la enfermedad, compresión abdominal espiratoria forzada e hipoventilación nocturna.","Spanish_Disease_Name__c":"distrofia muscular congénita tipo 1b","Spanish_GARD_Synonym__c":"cmd1b; mdc1b","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0011486","GARD_Synonym__c":"cmd1b; congenital muscular dystrophy type 1b; mdc1b","Name":"Congenital muscular dystrophy 1B","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure CMD - Congenital Muscular Dystrophy","Website__c":"https://www.curecmd.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98893"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98893"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110634","Source__c":"MONDO:0011486","Xref__c":"DOID:0110634"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764944006","Source__c":"C1858118; MONDO:0011486","Xref__c":"764944006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858118","Source__c":"C1858118","Xref__c":"C1858118"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565748","Source__c":"MONDO:0011486","Xref__c":"C565748"},{"URL__c":"https://www.orpha.net/en/disease/detail/98893","Source__c":"C1858118; MONDO:0011486; ORPHA:98893","Xref__c":"ORPHA:98893"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346746","Source__c":"C1858118","Xref__c":"MEDGEN:346746"},{"URL__c":"https://www.omim.org/entry/604801","Source__c":"C1858118; MONDO:0011486; ORPHA:98893","Xref__c":"OMIM:604801"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011486","Source__c":"GARD:0012586","Xref__c":"MONDO:0011486"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003306","HPO_Synonym__c":"Reduced spine movement; Rigid spine","HPO_Name__c":"Spinal rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003560","HPO_Name__c":"Muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"A decrease in the strength of the diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009113","HPO_Synonym__c":"Diaphragmatic paraparesis; Weak diaphragm","HPO_Name__c":"Diaphragmatic weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003547","HPO_Synonym__c":"Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles","HPO_Name__c":"Shoulder girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"A contracture of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001771","HPO_Synonym__c":"Achilles tendon contractures; Contractures of the Achilles tendon; Shortening of the achilles tendon; Tight achilles tendon","HPO_Name__c":"Achilles tendon contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003720","HPO_Synonym__c":"Generalized increase in muscle cell size","HPO_Name__c":"Generalized muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012037","HPO_Synonym__c":"Wasting of pec muscles","HPO_Name__c":"Pectoralis amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012036","HPO_Name__c":"Sternocleidomastoid amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003391","HPO_Synonym__c":"Gower sign; Positive Gower sign; Positive Gowers sign","HPO_Name__c":"Gowers sign","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604801","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["cmd1b"," congenital muscular dystrophy type 1b"," mdc1b"]}