Acetazolamide-responsive myotonia
|
(Orphanet:99736)
|
Antisynthetase syndrome
|
(Orphanet:81)
|
Apolipoprotein A-I deficiency
|
(Orphanet:425)
|
Arthrogryposis due to muscular dystrophy
|
(Orphanet:1155)
|
Autosomal recessive limb-girdle muscular dystrophy type 2H
|
(Orphanet:1878)
|
Barth syndrome
|
(Orphanet:111)
|
Bethlem myopathy
|
(Orphanet:610)
|
Carnitine palmitoyl transferase II deficiency
|
(Orphanet:157)
|
Carnitine palmitoyl transferase II deficiency, myopathic form
|
(Orphanet:228302)
|
Central core disease
|
(Orphanet:597)
|
Centronuclear myopathy
|
(Orphanet:595)
|
Charcot-Marie-Tooth disease
|
(Orphanet:166)
|
Choreoacanthocytosis
|
(Orphanet:2388)
|
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
|
(Orphanet:1369)
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Congenital fiber-type disproportion myopathy
|
(Orphanet:2020)
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Congenital muscular dystrophy due to LMNA mutation
|
(Orphanet:157973)
|
Corneal-cerebellar syndrome
|
(Orphanet:3177)
|
Cyprus facial-neuromusculoskeletal syndrome
|
(Orphanet:2674)
|
Duane anomaly - myopathy - scoliosis
|
(Orphanet:50817)
|
Duchenne and Becker muscular dystrophy
|
(Orphanet:262)
|
Emery-Dreifuss muscular dystrophy
|
(Orphanet:261)
|
Eosinophilic fasciitis
|
(Orphanet:3165)
|
Facioscapulohumeral dystrophy
|
(Orphanet:269)
|
Focal myositis
|
(Orphanet:48918)
|
Gemignani syndrome
|
(Orphanet:2074)
|
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
|
(Orphanet:368)
|
Gonadal dysgenesis, XY type - associated anomalies
|
(Orphanet:1770)
|
Hereditary continuous muscle fiber activity
|
(Orphanet:972)
|
Hyperkalemic periodic paralysis
|
(Orphanet:682)
|
Hypomyelination neuropathy - arthrogryposis
|
(Orphanet:2680)
|
Inclusion body myositis
|
(Orphanet:611)
|
Intellectual deficit - myopathy - short stature - endocrine defect
|
(Orphanet:3068)
|
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior
|
(Orphanet:85329)
|
Isolated glycerol kinase deficiency
|
(Orphanet:408)
|
Juvenile dermatomyositis
|
(Orphanet:93672)
|
Macrophagic myofasciitis
|
(Orphanet:592)
|
Malignant hyperthermia - arthrogryposis - torticollis
|
(Orphanet:2215)
|
Marinesco-Sjögren syndrome
|
(Orphanet:559)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
(Orphanet:1933)
|
Mitochondrial myopathy - lactic acidosis - deafness
|
(Orphanet:2597)
|
Multifocal muscular fibrosis - obstructed vessels
|
(Orphanet:2033)
|
Multiminicore myopathy
|
(Orphanet:598)
|
Muscle-eye-brain disease
|
(Orphanet:588)
|
Muscular dystrophy - white matter spongiosis
|
(Orphanet:1877)
|
Myoclonus - cerebellar ataxia - deafness
|
(Orphanet:2589)
|
Myopathy - growth delay - intellectual deficit - hypospadias
|
(Orphanet:2601)
|
Myotonia fluctuans
|
(Orphanet:99734)
|
Myotonia permanens
|
(Orphanet:99735)
|
Neutral lipid storage disease
|
(Orphanet:165)
|
Oculocerebrorenal syndrome
|
(Orphanet:534)
|
Oculopharyngeal muscular dystrophy
|
(Orphanet:270)
|
Ophthalmoplegia - myalgia - tubular aggregates
|
(Orphanet:2742)
|
Pantothenate kinase-associated neurodegeneration
|
(Orphanet:157850)
|
Polymyositis
|
(Orphanet:732)
|
Posterior fusion of lumbosacral vertebrae - blepharoptosis
|
(Orphanet:2064)
|
Potassium-aggravated myotonia
|
(Orphanet:612)
|
Proximal spinal muscular atrophy
|
(Orphanet:70)
|
Pyomyositis
|
(Orphanet:764)
|
Schwartz-Jampel syndrome
|
(Orphanet:800)
|
Usher syndrome
|
(Orphanet:886)
|
Walker-Warburg syndrome
|
(Orphanet:899)
|
Williams syndrome
|
(Orphanet:904)
|
X-linked centronuclear myopathy
|
(Orphanet:596)
|
Zellweger-like syndrome without peroxisomal anomalies
|
(Orphanet:50812)
|