Below is a partial list of neuromuscular disorders.
Affecting muscle Muscular dystrophies Dystrophinopathies Duchenne muscular dystrophy Becker muscular dystrophy DMD-associated dilated cardiomyopathy
Limb girdle muscular dystrophies Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein. LGMD D1 DNAJB6-related LGMD D2 TNP03-related LGMD D3 HNRNPDL-related LGMD D4 calpain3-related LGMD D5 collagen 6-related LGMD R1 calpain3-related (Calpainopathy) LGMD R2 dysferlin-related LGMD R3 α-sarcoglycan-related LGMD R4 β-sarcoglycan-related LGMD R5 γ-sarcoglycan-related LGMD R6 δ-sarcoglycan-related LGMD R7 telethonin-related LGMD R8 TRIM 32-related LGMD R9 FKRP-related LGMD R10 titin-related LGMD R11 POMT1-related LGMD R12 anoctamin5-related LGMD R13 Fukutin-related LGMD R14 POMT2-related LGMD R15 POMGnT1-related LGMD R16 α-dystroglycan-related LGMD R17 plectin-related LGMD R18 TRAPPC11-related LGMD R19 GMPPB-related LGMD R20 ISPD-related LGMD R21 POGLUT1-related LGMD R22 collagen 6-related LGMD R23 laminin α2-related LGMD R24 POMGNT2-related
Congenital muscular dystrophies LAMA2-related (merosin deficient) congenital muscular dystrophy (Emery–Dreifuss muscular dystrophy) Collagen VI-related muscular dystrophy (Bethlem myopathy, Ullrich congenital muscular dystrophy) α-Dystroglycanopathies (Walker–Warburg syndrome, muscle-eye-brain disease) Laminopathies
Distal muscular dystrophy Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1 Late adult-onset type 2a Late adult-onset type 2b Early adult-onset type 1 Early adult-onset type 2 Early adult-onset type 3
Myofibrillar myopathy Myofibrillar myopathies are diseases that cause similar findings of affected muscle when viewed under a microscope. Desminopathy Myotilinopathy Zaspopathy Filaminopathy Bag3opathy
Other muscular dystrophies Myotonic dystrophy Facioscapulohumeral muscular dystrophy Emery–Dreifuss muscular dystrophy (EDMD)
Congenital myopathies Nemaline myopathy Central core myopathy Centronuclear myopathy Congenital fiber type disproportion Multi/minicore myopathy Cylindrical spirals myopathy
Metabolic diseases Mutations causing defects in metabolism can cause muscle damage due to inadequate energy for muscles or accumulation of waste products.
Mitochondrial myopathy Mitochondrial myopathies are diseases caused by mutations related to mitochondria, and thus are generally inherited from the mother with variable expressivity due to heteroplasmy. Kearns–Sayre syndrome Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) Myoclonic epilepsy with ragged red fibers (MERRF) Cytochrome c oxidase (COX) deficiency Mitochondrial complex I deficiency Mitochondrial complex II deficiency Mitochondrial complex III deficiency (cytochrome b deficiency) mtDNA deletion
Glycogen storage disease Glycogen storage diseases (GSD) are a group of diseases caused by mutations related to glycogen metabolism. GSD type II (Pompe disease) GSD type V (McArdle disease) GSD type VII (Tarui disease) GSD type XI (Lactate dehydrogenase deficiency) GSD type X (Phosphoglycerate mutase deficiency) Phosphoglycerate kinase deficiency
Fat oxidation defect Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase II deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Very long-chain acyl-coenzyme A dehydrogenase deficiency
Other metabolic myopathies Myoadenylate deaminase (MADA) deficiency
Inflammatory myopathies Inclusion body myositis Dermatomyositis Polymyositis Statin-associated autoimmune myopathy
Other diseases of muscle Rippling muscle disease Drug-induced myopathy
Affecting nerve Troyer syndrome Cramp fasciculation syndrome Hereditary spastic paraplegia Spinocerebellar ataxia Spinal and bulbar muscular atrophy Neuronopathies A neuronopathy affects the cell body of a nerve cell in the peripheral nervous system. Amyotrophic lateral sclerosis Spinal muscular atrophy Spinal muscular atrophy with respiratory distress type 1 Atypical motor neuron diseases Dorsal root ganglion disorders Neuropathy A neuropathy affects the peripheral nerves. Guillain–Barré syndrome Charcot–Marie–Tooth disease Chemotherapy-induced peripheral neuropathy Compressive (entrapment) neuropathies Upper extremity Median neuropathy at wrist (carpal tunnel syndrome) Proximal median neuropathy Ulnar neuropathy at elbow Ulnar neuropathy at wrist Radial neuropathy at the spiral groove in the axilla superficial radial sensory neuropathy posterior interosseous neuropathy Suprascapular neuropathy Axillary neuropathy Musculocutaneous neuropathy Long thoracic neuropathy Lower extremity deep peroneal mononeuropathy at the fibular neck common fibular mononeuropathy at the hip deep fibular mononeuropathy at the ankle superficial fibular mononeuropathy sciatic mononeuroapthy at the hip or thigh piriformis syndrome proximal tibial mononeuropathy tarsal tunnel syndrome interdigital neuropathy (Morton's Neuroma) sural mononeuropathy femoral mononeuropathy saphenous mononeuropathy lateral femoral cutaneous neuropathy ilioinguinal neuropathy iliohypogastric neuropathy genitofemoral neuropathy posterior femoral cutaneous neuropathy obturator neuropathy neuropathy of gluteal nerves Cranial nerve palsies trigeminal nerve trigeminal neuralgia trigeminal sensory neuropathy numb chin syndrome numb cheek syndrome herpes simplex virus infection facial nerve bell's palsy bilateral facial palsy congenital (trauma, Mobius syndrome, cardiofacial syndrome) glossopharyngeal nerve glossopharyngeal neuralgia glomus jugulare tumor vagus nerve injury spinal accessory nerve palsy hypoglossal nerve injury
Affecting neuromuscular junction Myasthenia gravis Congenital myasthenic syndrome Lambert–Eaton myasthenic syndrome Isaac's syndrome
Other Multiple sclerosis Peripheral nerve tumor Stiff-person syndrome
References