Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal distribution that later extends to the scapular and pelvic girdle muscles, and cardiac involvement that usually occurs after the second decade of life. So far, five genes, EMD (emerin), LMNA, SYNE (nesprin)1, SYNE2 and FHL1, have been associated to EDMD phenotypes, that can be inherited following an X-linked, autosomal dominant or autosomal recessive pattern of inheritance. Most of genes known to be associated with EDMD are critical for nuclear envelope integrity.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H00563 Emery-Dreifuss muscular dystrophy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00563 Emery-Dreifuss muscular dystrophy
Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D
Title
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM
Title
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic scapuloperoneal syndromes exist, the latter being referred to as scapuloperoneal myopathy (SPM). Distinct subtypes of SPM are caused by mutations in the sarcomeric muscle proteins desmin and myosin heavy chain 7. The X-linked dominant form of SPM (XSPM) is caused by mutations in the FHL1 gene.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H00656 Scapuloperoneal myopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00656 Scapuloperoneal myopathy
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C72 Congenital myopathies
H00657 Reducing body myopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00657 Reducing body myopathy
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
DISEASE: X-linked myopathy with postural muscle atrophy
Entry
H00697 Disease
Name
X-linked myopathy with postural muscle atrophy
Description
X-linked myopathy with postural muscle atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative muscle groups are hypertrophic. Linkage studies and haplotype analysis followed by direct gene sequencing have identified five mutations in the FHL1 gene in patients with XMPMA.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H00697 X-linked myopathy with postural muscle atrophy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00697 X-linked myopathy with postural muscle atrophy
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
Uruguay facio-cardio-musculo-skeletal syndrome (FCMSU) is an X-linked recessive syndrome characterized by pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and cardiac ventricular hypertrophy leading to premature death. It has been suggested that FHL1 splice site mutations may contribute to the complex and severe phenotype.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02953 Uruguay facio-cardio-musculo-skeletal syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02953 Uruguay facio-cardio-musculo-skeletal syndrome
Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR
Title
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
