Hereditary neuromuscular disease

Part of

Sub-types of Hereditary neuromuscular disease

• Hereditary peripheral neuropathy 6 trials · 478 incl. sub-types
  65 sub-types

  • Carpal tunnel syndrome 165 trials Sub-types →
  • Charcot-Marie-Tooth disease 51 trials · 77 incl. sub-types Sub-types →
  • Familial amyloid neuropathy 52 trials · 54 incl. sub-types Sub-types →
  • Hereditary sensory and autonomic neuropathy 52 trials · 54 incl. sub-types Sub-types →
  • Proximal spinal muscular atrophy 14 trials · 42 incl. sub-types Sub-types →
  • Metachromatic leukodystrophy 20 trials Sub-types →
  • Krabbe disease 15 trials Sub-types →
  • Sandhoff disease 13 trials Sub-types →
  • Tay-Sachs disease 13 trials Sub-types →
  • Chediak-Higashi syndrome 9 trials
  • Leigh syndrome 9 trials Sub-types →
  • Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
  • Adrenomyeloneuropathy 7 trials
  • Cerebrotendinous xanthomatosis 6 trials
  • Kearns-Sayre syndrome 5 trials
  • Distal hereditary motor neuropathy 0 trials · 4 incl. sub-types Sub-types →
  • Hereditary neuropathy with liability to pressure palsies 4 trials
  • Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
  • Ornithine aminotransferase deficiency 4 trials
  • Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
  • NARP syndrome 3 trials
  • Biotinidase deficiency 3 trials
  • Coenzyme Q10 deficiency 3 trials Sub-types →
  • Giant axonal neuropathy 2 trials · 3 incl. sub-types Sub-types →
  • Hereditary motor and sensory neuropathy 3 trials Sub-types →
  • Methylmalonic aciduria and homocystinuria type cblC 3 trials
  • Mitochondrial DNA depletion syndrome 4a 3 trials
  • Abetalipoproteinemia 2 trials
  • Fumaric aciduria 2 trials
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2 trials
  • Niemann-Pick disease type B 1 trial
  • PRPS1 deficiency disorder 1 trial
  • Adult polyglucosan body disease 1 trial
  • Familial isolated deficiency of vitamin E 1 trial
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 trial
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
  • Neuropathy, congenital hypomelinating 0 trials · 1 incl. sub-types Sub-types →
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial Sub-types →
  • Charcot-Marie-Tooth disease type 5 0 trials
  • EMILIN-1-related connective tissue disease 0 trials
  • Finnish type amyloidosis 0 trials
  • PHARC syndrome 0 trials
  • VPS13A-related neurodegenerative disease 0 trials
  • Amyotrophic neuralgia 0 trials
  • Ataxia - oculomotor apraxia type 4 0 trials
  • Attenuated Chédiak-Higashi syndrome 0 trials
  • Beta-mannosidosis 0 trials
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 trials
  • Congenital trigeminal anesthesia 0 trials
  • Familial episodic pain syndrome 0 trials Sub-types →
  • Familial recurrent peripheral facial palsy 0 trials
  • Hereditary motor and sensory neuropathy, Okinawa type 0 trials Sub-types →
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 trials
  • Infantile axonal neuropathy 0 trials
  • Meralgia paraesthetica, familial 0 trials
  • Neurodegeneration with brain iron accumulation 2A 0 trials
  • Neuropathy with hearing impairment 0 trials
  • Neuropathy, hereditary sensory and autonomic, type IId 0 trials
  • Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 0 trials
  • Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0 trials
  • Oxoglutaricaciduria 0 trials
  • Peripheral motor neuropathy, childhood-onset, biotin-responsive 0 trials
  • Primary CD59 deficiency 0 trials
  • Progressive demyelinating neuropathy with bilateral striatal necrosis 0 trials
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0 trials
• Muscular dystrophy 74 trials · 288 incl. sub-types
  11 sub-types

  • DMD-related muscular dystrophy 0 trials · 146 incl. sub-types Sub-types →
  • Progressive muscular dystrophy 2 trials · 124 incl. sub-types Sub-types →
  • Congenital muscular dystrophy 1 trial · 9 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
• Hereditary motor neuron disease 1 trial · 169 incl. sub-types
  9 sub-types

  • Spinal muscular atrophy 107 trials · 117 incl. sub-types Sub-types →
  • Familial amyotrophic lateral sclerosis 2 trials · 29 incl. sub-types Sub-types →
  • Lateral sclerosis 24 trials Sub-types →
  • Riboflavin transporter deficiency 1 trial · 6 incl. sub-types Sub-types →
  • Distal hereditary motor neuropathy 0 trials · 4 incl. sub-types Sub-types →
  • ALS2-related motor neuron disease 0 trials Sub-types →
  • Motor neuron disease with dementia and ophthalmoplegia 0 trials
  • Neurogenic scapuloperoneal syndrome, Kaeser type 0 trials
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures 0 trials Sub-types →
• Hereditary spastic paraplegia 27 trials · 33 incl. sub-types
  45 sub-types

  • Complex hereditary spastic paraplegia 1 trial · 7 incl. sub-types Sub-types →
  • Hereditary spastic paraplegia 50 3 trials
  • Hereditary spastic paraplegia 3A 2 trials
  • Hereditary spastic paraplegia 4 2 trials
  • Hereditary spastic paraplegia 5A 2 trials
  • Hereditary spastic paraplegia 47 1 trial
  • Hereditary spastic paraplegia 51 1 trial
  • Hereditary spastic paraplegia 52 1 trial
  • Hereditary spastic paraplegia 7 1 trial
  • ADAR-related hereditary spastic paraplegia 0 trials
  • Charcot-Marie-Tooth disease type 5 0 trials
  • IFIH1-related hereditary spastic paraplegia 0 trials
  • RNASEH2B-related hereditary spastic paraplegia 0 trials
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 trials
  • Hereditary spastic paraplegia 10 0 trials
  • Hereditary spastic paraplegia 13 0 trials
  • Hereditary spastic paraplegia 14 0 trials
  • Hereditary spastic paraplegia 16 0 trials
  • Hereditary spastic paraplegia 2 0 trials
  • Hereditary spastic paraplegia 30 0 trials Sub-types →
  • Hereditary spastic paraplegia 31 0 trials
  • Hereditary spastic paraplegia 33 0 trials
  • Hereditary spastic paraplegia 35 0 trials
  • Hereditary spastic paraplegia 48 0 trials
  • Hereditary spastic paraplegia 56 0 trials
  • Hereditary spastic paraplegia 6 0 trials
  • Hereditary spastic paraplegia 77 0 trials
  • Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
  • Mast syndrome 0 trials
  • Pure hereditary spastic paraplegia 0 trials Sub-types →
  • Pure or complex hereditary spastic paraplegia 0 trials
  • Spastic paraplegia 72b, autosomal recessive 0 trials
  • Spastic paraplegia 79A, autosomal dominant, with ataxia 0 trials
  • Spastic paraplegia 80, autosomal dominant 0 trials
  • Spastic paraplegia 81, autosomal recessive 0 trials
  • Spastic paraplegia 82, autosomal recessive 0 trials
  • Spastic paraplegia 83, autosomal recessive 0 trials
  • Spastic paraplegia 87, autosomal recessive 0 trials
  • Spastic paraplegia 88, autosomal dominant 0 trials
  • Spastic paraplegia 89, autosomal recessive 0 trials
  • Spastic paraplegia 90A, autosomal dominant 0 trials
  • Spastic paraplegia 90B, autosomal recessive 0 trials
  • Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 trials
  • Spastic paraplegia 92, autosomal recessive 0 trials
  • Spastic paraplegia 93, autosomal recessive 0 trials
• Benign paroxysmal positional vertigo 18 trials
• Meniere disease 16 trials
  3 sub-types

  • Active cochlear Meniere disease 0 trials
  • Active cochleovestibular Meniere disease 0 trials
  • Active vestibular Meniere disease 0 trials
• RYR1-related myopathy 5 trials · 6 incl. sub-types
  5 sub-types

  • Central core myopathy 2 trials
  • King-Denborough syndrome 0 trials
  • Congenital multicore myopathy with external ophthalmoplegia 0 trials
  • Congenital myopathy with myasthenic-like onset 0 trials
  • Rhabdomyolysis-myalgia syndrome 0 trials
• Congenital myasthenic syndrome 5 trials
  8 sub-types

  • Postsynaptic congenital myasthenic syndrome 0 trials · 2 incl. sub-types Sub-types →
  • Presynaptic congenital myasthenic syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Congenital myasthenic syndrome 15 0 trials
  • Congenital myasthenic syndrome 5 0 trials
  • Congenital myasthenic syndrome with tubular aggregates 0 trials Sub-types →
  • Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0 trials
  • Myasthenic syndrome, congenital, 22 0 trials
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 trials
• Malignant hyperthermia of anesthesia 5 trials
• SCN4A-related channelopathy 1 trial · 2 incl. sub-types
  4 sub-types

  • Hyperkalemic periodic paralysis 1 trial
  • Paramyotonia congenita of Von Eulenburg 1 trial
  • Hypokalemic periodic paralysis, type 2 0 trials
  • Potassium-aggravated myotonia 0 trials Sub-types →
• Early-onset myopathy with fatal cardiomyopathy 1 trial
• Andersen-Tawil syndrome 0 trials
• CNGB3-related retinopathy 0 trials
  1 sub-type

  • Achromatopsia 3 0 trials
• KY-related neuromyopathy 0 trials
  2 sub-types

  • Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 0 trials
  • Myofibrillar myopathy 7 0 trials Sub-types →
• Morimoto-Ryu-Malicdan neuromuscular syndrome 0 trials
• X-linked recessive mitochondrial myopathy 0 trials
• Myofibrillar myopathy 1 0 trials
• Myotonia congenita, autosomal dominant 0 trials
• Myotonia congenita, autosomal recessive 0 trials
• Neuromuscular disorder, congenital, with dysmorphic facies 0 trials
• Periodic paralysis with later-onset distal motor neuropathy 0 trials
• Vertigo, benign recurrent, 1 0 trials