Hereditary skeletal muscle disorder

Part of

Sub-types of Hereditary skeletal muscle disorder

• Muscular dystrophy 74 trials · 290 incl. sub-types
  11 sub-types

  • DMD-related muscular dystrophy 0 trials · 146 incl. sub-types Sub-types →
  • Progressive muscular dystrophy 2 trials · 125 incl. sub-types Sub-types →
  • Congenital muscular dystrophy 1 trial · 10 incl. sub-types Sub-types →
  • Distal myopathy 1 trial · 4 incl. sub-types Sub-types →
  • LAMA2-related muscular dystrophy 2 trials · 3 incl. sub-types Sub-types →
  • Fukuda-Miyanomae-Nakata syndrome 0 trials
  • Muscular dystrophy, Barnes type 0 trials
  • Muscular dystrophy, Hemizygous lethal type 0 trials
  • Muscular dystrophy, Mabry type 0 trials
  • Muscular dystrophy, cardiac type 0 trials
  • Muscular dystrophy, progressive Pectorodorsal 0 trials
• Congenital myopathy 8 trials · 75 incl. sub-types
  53 sub-types

  • Congenital structural myopathy 5 trials · 62 incl. sub-types Sub-types →
  • RYR1-related myopathy 5 trials · 6 incl. sub-types Sub-types →
  • Centronuclear myopathy 2 trials · 5 incl. sub-types Sub-types →
  • TTN-related myopathy 2 trials · 4 incl. sub-types Sub-types →
  • TPM2-related myopathy 1 trial · 3 incl. sub-types Sub-types →
  • SELENON-related myopathy 1 trial Sub-types →
  • TOR1AIP1-related myopathy 0 trials · 1 incl. sub-types Sub-types →
  • TPM3-related myopathy 1 trial Sub-types →
  • Myopathy, congenital, with tremor 1 trial
  • Bailey-Bloch congenital myopathy 0 trials
  • Batten-Turner congenital myopathy 0 trials
  • Bethlem myopathy 0 trials Sub-types →
  • Compton-North congenital myopathy 0 trials
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 trials
  • MEGF10-related myopathy 0 trials
  • MYH7-related skeletal myopathy 0 trials
  • SCN4A-related myopathy, autosomal recessive 0 trials Sub-types →
  • Ullrich congenital muscular dystrophy 0 trials Sub-types →
  • Alpha-actinopathy 0 trials Sub-types →
  • Benign Samaritan congenital myopathy 0 trials
  • Congenital generalized hypercontractile muscle stiffness syndrome 0 trials
  • Congenital myopathy 10b, mild variant 0 trials
  • Congenital myopathy 11 0 trials
  • Congenital myopathy 15 0 trials
  • Congenital myopathy 18 0 trials
  • Congenital myopathy 20 0 trials
  • Congenital myopathy 21 with early respiratory failure 0 trials
  • Congenital myopathy 22A, classic 0 trials
  • Congenital myopathy 22B, severe fetal 0 trials
  • Congenital myopathy 25 0 trials
  • Congenital myopathy 26 0 trials
  • Congenital myopathy 27 0 trials
  • Congenital myopathy 28 with rigid spine 0 trials
  • Congenital myopathy 2b, severe infantile, autosomal recessive 0 trials
  • Congenital myopathy 2c, severe infantile, autosomal dominant 0 trials
  • Congenital myopathy 7A, myosin storage, autosomal dominant 0 trials
  • Congenital myopathy with reduced type 2 muscle fibers 0 trials
  • Cylindrical spirals myopathy 0 trials
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome 0 trials
  • Fingerprint body myopathy 0 trials
  • Hyaline body myopathy 0 trials
  • Intellectual disability-myopathy-short stature-endocrine defect syndrome 0 trials
  • Myopathy with hexagonally cross-linked tubular arrays 0 trials
  • Myopathy, congenital proximal, with minicore lesions 0 trials
  • Myopathy, congenital, progressive, with scoliosis 0 trials
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 0 trials
  • Myopathy, congenital, with respiratory insufficiency and bone fractures 0 trials
  • Myopathy, congenital, with structured cores and z-line abnormalities 0 trials
  • Myopathy, myosin storage, autosomal recessive 0 trials
  • Myopathy, proximal, and ophthalmoplegia 0 trials Sub-types →
  • Reducing body myopathy 0 trials Sub-types →
  • Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 0 trials
  • Tubular aggregate myopathy 0 trials Sub-types →
• Congenital diaphragmatic hernia 45 trials
  5 sub-types

  • Diaphragmatic hernia 1 1 trial
  • Diaphragmatic hernia 2 0 trials
  • Diaphragmatic hernia 3 0 trials
  • Diaphragmatic hernia 4, with cardiovascular defects 0 trials
  • Hernia, anterior diaphragmatic 0 trials
• Myopathy caused by variation in FKRP 0 trials · 8 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2I 8 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 trials
  • Muscular dystrophy-dystroglycanopathy type B5 0 trials
• Hereditary inclusion-body myopathy 1 trial · 6 incl. sub-types
  8 sub-types

  • GNE myopathy 3 trials
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 1 trial · 3 incl. sub-types Sub-types →
  • X-linked myopathy with excessive autophagy 0 trials Sub-types →
  • Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 0 trials
  • Desmin-related myopathy with Mallory body-like inclusions 0 trials
  • Hereditary inclusion body myopathy type 4 0 trials
  • Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 0 trials
  • Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
• Poland syndrome 2 trials
• Myopathy caused by variation in FKTN 1 trial · 2 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2M 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 trials
• Myopathy due to myoadenylate deaminase deficiency 1 trial
• Paramyotonia congenita of Von Eulenburg 1 trial
• Inherited rippling muscle disease 0 trials · 1 incl. sub-types
  2 sub-types

  • Rippling muscle disease 2 1 trial
  • Rippling muscle disease 1 0 trials
• Myopathy caused by variation in CRPPA 0 trials · 1 incl. sub-types
  2 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2U 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 0 trials
• Myopathy caused by variation in GMPPB 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2T 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 0 trials
• Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2O 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 0 trials
• Myopathy caused by variation in POMT1 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2K 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 0 trials
• Myopathy caused by variation in POMT2 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2N 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 0 trials
• Polyglucosan body myopathy 0 trials · 1 incl. sub-types
  2 sub-types

  • Polyglucosan body myopathy 1 with or without immunodeficiency 1 trial
  • Polyglucosan body myopathy type 2 1 trial
• ACTN2-related cardiac and skeletal myopathy 0 trials
  3 sub-types

  • Dilated cardiomyopathy 1AA 0 trials
  • Myopathy, congenital, with structured cores and z-line abnormalities 0 trials
  • Myopathy, distal, 6, adult-onset, autosomal dominant 0 trials
• Brody myopathy 0 trials
• FHL1-related myopathy 0 trials
  5 sub-types

  • Uruguay Faciocardiomusculoskeletal syndrome 0 trials
  • X-linked myopathy with postural muscle atrophy 0 trials
  • X-linked scapuloperoneal muscular dystrophy 0 trials
  • Myopathy, reducing body, X-linked, childhood-onset 0 trials
  • Myopathy, reducing body, X-linked, early-onset, severe 0 trials
• Wieacker-Wolff syndrome (spectrum) 0 trials
  2 sub-types

  • Wieacker-Wolff syndrome 0 trials
  • Wieacker-Wolff syndrome, female-restricted 0 trials
• Hereditary continuous muscle fiber activity 0 trials
• Hereditary myopathy with lactic acidosis due to ISCU deficiency 0 trials
• Metabolic myopathy due to lactate transporter defect 0 trials
• Myopathy caused by variation in POMGNT2 0 trials
  1 sub-type

  • Congenital muscular dystrophy caused by variation in POMGNT2 0 trials Sub-types →
• Myopathy due to calsequestrin and SERCA1 protein overload 0 trials
• Myopathy with abnormal lipid metabolism 0 trials
• Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0 trials
• Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 0 trials
• Myopathy, sarcoplasmic body 0 trials
• Myosclerosis 0 trials
• Potassium-aggravated myotonia 0 trials
  3 sub-types

  • Acetazolamide-responsive myotonia 0 trials
  • Myotonia fluctuans 0 trials
  • Myotonia permanens 0 trials
• Proximal myopathy with extrapyramidal signs 0 trials
• Proximal myopathy with focal depletion of mitochondria 0 trials