Delayed speech and language development, and Limb-girdle muscular dystrophy

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGC3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGC4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGC5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGC7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGC9 (OMIM ) caused by mutation in the DAG1 gene (OMIM ); MDDGC12 (OMIM ), caused by mutation in the POMK gene (OMIM ); and MDDGC14 (OMIM ) caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 Is also known as muscular dystrophy, limb-girdle, type 2k;lgmd2k;lgmd2k; limb-girdle muscular dystrophy-intellectual disability syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Scoliosis
• Motor delay

SOURCES: GARD NCIT MONDO EFO UMLS DOID OMIM ORPHANET SCTID

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017).For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMD2A (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S Is also known as ;lgmd2s

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: DOID ORPHANET OMIM MONDO UMLS GARD

Medium match ZEBRA BODY MYOPATHY

) gene may be involved.

• Global developmental delay
• Elevated serum creatine phosphokinase
• Facial palsy
• Proximal muscle weakness
• Neonatal hypotonia

SOURCES: SCTID ORPHANET MONDO UMLS

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5

Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 Is also known as muscular dystrophy, limb-girdle, type 2i;lgmd2i, muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related;lgmd2i; limb-girdle muscular dystrophy due to fkrp deficiency

• Autosomal recessive inheritance
• Generalized hypotonia
• Scoliosis
• Motor delay
• Muscle weakness

SOURCES: MESH UMLS ORPHANET MONDO SCTID NCIT GARD DOID OMIM

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Seizures
• Generalized hypotonia
• Pica

SOURCES: NCIT OMIM

Medium match ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013). Genetic Heterogeneity of Ullrich Congenital Muscular DystrophyUCMD2 (OMIM ) is caused by mutation in the COL12A1 gene (OMIM ) on chromosome 6q.

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1 Is also known as ullrich congenital muscular dystrophy;ucmd, muscular dystrophy, scleroatonic, ullrich disease, ullrich scleroatonic muscular dystrophy;scleroatonic muscular dystrophy; ucmd; ullrich disease

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Short stature
• Generalized hypotonia
• Scoliosis

SOURCES: OMIM SCTID UMLS MONDO ORPHANET

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E Is also known as ;beta-sarcoglycanopathy; lgmd2e; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency

• Autosomal recessive inheritance
• Milia
• Myopathy
• Nevus
• Delayed speech and language development

SOURCES: MONDO SCTID DOID OMIM UMLS GARD ORPHANET

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C Is also known as muscular dystrophy, duchenne-like, duchenne-like muscular dystrophy, autosomal recessive, type 1;dmda1, dmda, adhalin deficiency, secondary, sarcoglycan, gamma, deficiency of, severe childhood autosomal recessive muscular dystrophy, north african type;scarmd, maghrebian myopathy;gamma-sarcoglycanopathy; lgmd2c; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency

• Autosomal recessive inheritance
• Intellectual disability
• Scoliosis
• Muscle weakness
• Myopathy

SOURCES: UMLS ORPHANET SCTID DOID MONDO OMIM GARD MESH

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 Is also known as muscular dystrophy, limb-girdle, type 2p;lgmd2p, muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related;lgmd2p

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Motor delay
• Muscle weakness

SOURCES: GARD OMIM UMLS ORPHANET MONDO DOID

Medium match MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD ). Mapping and molecular genetic studies indicate that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no clear correlation found between the extent of the deletion and the severity of the disorder, DMD deletions usually result in frameshift. Boland et al. (1996) studied a retrospective cohort of 33 male patients born between 1953 and 1983. The mean age at DMD diagnosis was 4.6 years; wheelchair dependency had a median age of 10 years; cardiac muscle failure developed in 15% of patients with a median age of 21.5 years; smooth muscle dysfunction in the digestive or urinary tract occurred in 21% and 6% of the patients, respectively, at a median age of 15 years. In this cohort, death occurred at a median age of 17 years. The authors commented that the diagnosis of DMD is being made at an earlier age but survival has not changed.

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD Is also known as duchenne muscular dystrophy, muscular dystrophy, pseudohypertrophic progressive, duchenne type

• Intellectual disability
• Generalized hypotonia
• Scoliosis
• Muscular hypotonia
• Muscle weakness

SOURCES: OMIM