List of neuromuscular disorders
# List of neuromuscular disorders

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

**Compressive (entrapment) neuropathies**

**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
* Stiff-person syndrome
