Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy. |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
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. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Dermatomyositis sine myositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare idiopathic inflammatory myopathy characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral Achilles tendon contracture, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Cystinuria, type 1 |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Hypotonia cystinuria syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myofascial pain syndrome of lumbar spine (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Myofascial pain syndrome of thoracic spine (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Infective myositis of pelvis (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Infective myositis of thigh (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Infective myositis of neck |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Infective myositis of back (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Infective myositis of shoulder (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Infective myositis of upper arm (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Tropical pyomyositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Infective myositis of lower leg (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Infective myositis of foot |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Infective myositis of hand |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Purulent myositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
dystrophie musculaire des ceintures autosomique dominante type 1C |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
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. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
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. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
A rare idiopathic inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
myopathie inflammatoire symptomatique associée à un autre trouble |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Symptomatic inflammatory myopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Idiopathic inflammatory myopathy (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Hydatidosis myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Contracture of muscle following injury |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Congenital muscular dystrophy type 1A |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Skeletal muscle tissue |
Is a |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Rhabdomyolysis due to statin (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Familial infantile myasthenia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Acetylcholine resynthesis deficiency |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Congenital myasthenic syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Congenital end-plate acetylcholine receptor deficiency |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
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. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Amyotonia congenita |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Leigh-Syndrom mit nephrotischem Syndrom |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Schwartz-Jampel syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Sclerodermatomyositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Idiopathic dermatomyositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Traumatic hypotonia (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Myomalacia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Nutritional marasmus |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Muscle paresis due to and following neuromuscular blockade |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Muscle paralysis due to and following neuromuscular blockade (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Absence of power in skeletal muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
On examination - muscle tone normal |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Normal tone in skeletal muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Chronic alcoholic myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Acute alcoholic myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Injury of muscle and tendon of abdomen, lower back and pelvis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Muscle and tendon injury |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
On examination - joint - passive greater than active movement |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
7 |
Injury of muscle and tendon at neck level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Injury of multiple muscles and tendons at shoulder and upper arm level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Injury of muscle and tendon of head |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Injury of muscle and tendon at thorax level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
5 |
Injury of muscle and tendon at forearm level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Injury of extensor or abductor muscles and tendons of thumb at forearm level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Injury of multiple muscles and tendons at forearm level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Injury of muscle and tendon at hip and thigh level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Injury of multiple muscles and tendons at hip and thigh level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Injury of muscle(s) and tendon(s) of anterior muscle group at lower leg level |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |