Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.

A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood.

A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). ... Vicart et al. (1996) studied 28 members from 3 families with desmin-related myopathy, 1 of whom had been reported by Fardeau et al. (1978). ... Clinical Variability Selcen and Engel (2003) reported 2 unrelated patients with desmin-related myopathy, which they termed 'myofibrillar myopathy.' ... EMG and muscle biopsy were consistent with a myopathy. Seventy-five percent of abnormal muscle fiber regions reacted with desmin and alpha-B-crystallin. ... In 2 adult patients with myofibrillar myopathy, Selcen and Engel (2003) identified truncating mutations in the CRYAB gene (123590.0003-123590.0004).

A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness.

Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy.

A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade.

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

Clinical Features In 2 sisters, offspring of consanguineous parents of Turkish ancestry, and a third unrelated girl born of nonconsanguineous parents, Lyon et al. (1990) described a severe form of congenital encephalopathy and profound hypotonia associated with necrotizing myopathy, cardiomyopathy, and cataracts. ... Eyes - Cataracts Radiology - Corpus callosum atrophy Neuro - Congenital encephalopathy - Hypotonia Inheritance - Autosomal recessive Cardiac - Cardiomyopathy Muscle - Necrotizing myopathy ▲ Close

A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis.

Clinical Features Hayes et al. (1987) described the first instance of a myopathy resulting from a defect in the malate-aspartate shuttle system. ... He had mild weakness of the deltoid and infraspinatus muscles bilaterally and showed slight difficulty rising from a squatting position and from lying flat. Muscle - Myopathy - Exercise-induced muscle pain - Normal extraocular muscle function - No facial weakness - Mild weakness of neck flexion - Moderate symmetrical pectoral girdle wasting Lab - Malate-aspartate shuttle system defect - Red urine - Elevated serum creatine kinase Inheritance - Autosomal recessive ▲ Close

A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles.

A number sign (#) is used with this entry because myofibrillar myopathy-3 (MFM3) is caused by heterozygous mutation in the TTID gene (MYOT; 604103) on chromosome 5q31. Spheroid body myopathy (182920) is an allelic disorder with overlapping features. ... For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). Nomenclature Some cases of myofibrillar myopathy-3 were previously classified as a form of limb-girdle muscular dystrophy (type 1A; LGMD1A). ... Selcen and Engel (2004) reported 6 unrelated patients with myofibrillar myopathy caused by mutation in the myotilin gene. ... In 6 of 57 unrelated patients with myofibrillar myopathy, Selcen and Engel (2004) identified 4 heterozygous mutations in the myotilin gene (604103.0002-604103.0005).

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis.

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech).

A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement. ... Differential diagnosis The main differential diagnoses include other congenital myopathies, myotonic dystrophy and, if facial involvement is prominent, facioscapulohumeral dystrophy.

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability.

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease.

Retrieved 2016-05-11 . ^ a b Reference, Genetics Home. "collagen VI-related myopathy" . Genetics Home Reference . Retrieved 2016-05-11 . ^ a b c d e "Ullrich congenital muscular dystrophy | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "Chapter 5 - The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy". ... Retrieved 16 September 2020 . ^ Bönnemann, Carsten G. (2011-01-01). "The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy" . ... Retrieved 2016-05-11 . ^ Bushby KM, Collins J, Hicks D (2014) Collagen type VI myopathies. Adv Exp Med Biol 802:185-199 ^ "Congenital Muscular Dystrophy Treatment & Management: Medical Care, Surgical Care, Consultations" . 2019-09-04. ... External links [ edit ] Classification D ICD - 10 : G71.2 OMIM : 254090 MeSH : C537521 DiseasesDB : 33679 External resources GeneReviews : Collagen Type VI-Related Disorders Orphanet : 75840 Scholia has a topic profile for Ullrich congenital muscular dystrophy . v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins

They studied in detail 3 members of the family demonstrating a 'new' myopathy of the internal anal sphincter. ... GI - Proctalgia fugax - Intermittent severe rectal pain - Constipation - Internal anal sphincter myopathy Inheritance - Autosomal dominant ▲ Close

A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. ... Differential diagnosis Differential diagnoses include other congenital myopathies (X-linked myotubular myopathy, multiminicore disease, nemaline myopathy) and neuromuscular disorders (congenital muscular dystrophy, Emery-Dreifuss muscular dystrophy).