Disorder of muscle
Hereditary disease
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Hereditary myopathy (disorder)
Hereditary myopathy
hereditaire myopathie
erfelijke spierziekte
Id
541000146104
Status
Defined
Finding site
Muscle structure
Dutch rare neuromuscular disorders simple reference set
DHD Diagnosis thesaurus reference set
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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency
Aicardi's syndrome
Allan-Herndon-Dudley syndrome
Alpha-B crystallin-related late-onset myopathy
Amyotonia congenita
Asymmetric crying face association
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal dominant centronuclear myopathy
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
Autosomal dominant progressive external ophthalmoplegia
5
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive progressive external ophthalmoplegia
Benign congenital myopathy
1
Brody myopathy
Cap myopathy
Caveolin 3 related distal myopathy
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset spasticity with hyperglycinemia
Combined oxidative phosphorylation defect type 30
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
Congenital lethal myopathy Compton North type
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with myasthenic-like onset
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Cystinuria, type 1
2
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
Desmin-related myofibrillar myopathy
Diaphragmatic defect, limb deficiency, skull defect syndrome
Digital extensor muscle aplasia with polyneuropathy
DNA2-related mitochondrial DNA deletion syndrome
Duane anomaly, myopathy, scoliosis syndrome
Familial dyskinesia and facial myokymia
Familial hypokalemic periodic paralysis
FASTKD2-related infantile mitochondrial encephalomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Fryns syndrome
Generalized congenital lipodystrophy with myopathy
Genetically determined myasthenia
6
Glycogen storage disease due to lactate dehydrogenase deficiency
Glycogen storage disease, muscular form
5
Glycogen synthase deficiency
1
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
Hereditary hollow viscus myopathy
Hereditary hyperekplexia
Hereditary inclusion body myopathy type 4
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome
Hereditary inclusion body myositis
Hereditary myopathy associated with hydrocephalus
Hereditary myopathy with early respiratory failure
Hereditary progressive muscular dystrophy
11
Hereditary rippling muscle disease
Huntington's chorea
4
Hyperekplexia epilepsy syndrome
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
Inclusion body myopathy 2
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Intellectual disability, cataract, calcified pinna, myopathy syndrome
Intellectual disability, developmental delay, contracture syndrome
Intellectual disability, epilepsy, extrapyramidal syndrome
Intellectual disability, myopathy, short stature, endocrine defect syndrome
King Denborough syndrome
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
Laryngeal abductor paralysis with intellectual disability syndrome
Late-onset distal myopathy Markesbery Griggs type
Leigh syndrome with nephrotic syndrome
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 5
Lethal infantile mitochondrial myopathy
Lethal multiple pterygium syndrome
Lipid storage myopathy
3
Macrostomia, preauricular tag, external ophthalmoplegia syndrome
Malignant hyperthermia with arthrogryposis and torticollis syndrome
Maternally inherited mitochondrial cardiomyopathy
Maternally inherited mitochondrial cardiomyopathy and myopathy
Maternally inherited mitochondrial myopathy
Metabolic myopathy due to lactate transporter defect
Mitochondrial DNA depletion syndrome encephalomyopathic form
5
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial myopathy with sideroblastic anemia syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Multiple congenital anomalies, hypotonia, seizures syndrome
Multisystemic smooth muscle dysfunction syndrome
Muscle AMP deaminase deficiency
Muscle and heart glycogen synthase deficiency
Muscle filaminopathy
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
Muscular dystrophy Selcen type
Myoclonic epilepsy with ragged red fibers
Myopathy due to calsequestrin and SERCA1 protein overload
Myopathy with cryopyrin associated periodic syndrome
Myopathy with deficiency of iron-sulfur cluster assembly enzyme
Myosclerosis
Native American myopathy
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
2
Non dystrophic myotonia
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
Polyglucosan body myopathy type 1
Potassium aggravated myotonia
3
Progressive external ophthalmoplegia, myopathy, emaciation syndrome
Progressive myositis ossificans
Progressive osseous heteroplasia
Proximal myopathy with extrapyramidal signs
Prune belly syndrome
2
Puerto Rican infant hypotonia syndrome
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
Richieri Costa-da Silva syndrome
Schwartz-Jampel syndrome
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
Severe X-linked mitochondrial encephalomyopathy
Severe X-linked myotubular myopathy
Spastic paraparesis and deafness
Spheroid body myopathy
TMEM70 related mitochondrial encephalo-cardio-myopathy
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome
Triglyceride storage disease with ichthyosis
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
X-linked myopathy with excessive autophagy
X-linked parkinsonism with spasticity syndrome
X-linked spasticity, intellectual disability, epilepsy syndrome
