Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (MDDGC5)

External Ids:

OMIM 57 607155 Disease Ontology 12 DOID:0110299 ICD10 33 G71.0 Orphanet 59 ORPHA34515 UMLS via Orphanet 74 C1846672

ICD10 via Orphanet 34 G71.0 MedGen 42 C1846672 MeSH 44 D049288 SNOMED-CT via HPO 69 258211005 25273001 195021004 399020009 203076007 228158008 271706000 111266001 64217002 414564002 249710008 61960001 68962001 55300003 249940002 282195009 193225000 73297009 249939004 240059009 249941003 275514001 85232009 282479002 250018006 more UMLS 73 C1846672

NIH Rare Diseases : ⁵³ Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as lgmd2i, is related to myositis and muscular dystrophy, becker type, and has symptoms including waddling gait, myalgia and muscle cramp. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Striated Muscle Contraction and Mannose type O-glycan biosynthesis. Affiliated tissues include brain, skeletal muscle and testes, and related phenotypes are scoliosis and elevated serum creatine phosphokinase

Disease Ontology : ¹² An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.

OMIM : ⁵⁷ MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (607155)

UniProtKB/Swiss-Prot : ⁷⁵ Muscular dystrophy-dystroglycanopathy limb-girdle C5: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients.

Clinical features from OMIM:

607155

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 5.