Neuromuscular disorders, a new comprehensive classification

Post by: on May 23, 2024 | 0 Comment

Neuromuscular disorders may affect any part of the peripheral nervous system. In this article we will review a new proposed classification system for neuromuscular disorders based on the site of the major pathological process. Such a comprehensive system can meet the needs of clinicians.

Motor neuron disorders

Sporadic degenerative:

  • Amyotrophic lateral sclerosis and its variants (PMA, PLS, PBP, flail arm, flail leg, Mills)
  • Benign focal amyotrophy
  • Facial onset sensory and motor neuronopathy (FOSMN)
  • Multifocal acquired motor axonopathy (MAMA)

 

Hereditary:

  • 5q spinal muscular atrophy
  • Non-5q spinal muscular atrophy
  • Amyotrophic lateral sclerosis
  • Amyotrophic lateral sclerosis with or without frontotemporal dementia
  • Juvenile amyotrophic lateral sclerosis
  • Kennedy’s disease
  • Distal hereditary motor neuronopathy
  • Fazio-Londe disease
  • Brown-Vialetto-van Laere syndrome
  • Hexoaminidase A deficiency
  • Polyglucosan body disease
  • Adrenomyeloneuropathy
  • Primary lateral sclerosis
  • Spastic paraplegias

 

Infectious:

  • Poliomyelitis
  • Postpolio syndrome
  • Nonpolio enteroviral myelitis (acute flaccid myelitis)
  • Retroviral associated motor neuron disease
  • Segmental zoster paresis
  • West Nile virus encephalitis
  • HTLV1 associated myelopathy
  • Creutzfeldt-Jakob disease

 

Paraneoplastic/paraproteinemic:

  • Paraneoplastic motor neuron disease (lymphoma or carcinoma)
  • Monoclonal gammopathy

 

Toxic:

  • Lead
  • Mercury
  • Organophosphates

 

Physical cause:

  • Radiation
  • Electrical injury

Dorsal root ganglionopathy

Hereditary:

  • Friedreich ataxia
  • Ataxia with vitamin E deficiency
  • Spinocerebellar ataxias type 2
  • Mitochondrial recessive ataxia syndrome (MIRAS)
  • Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (SANDO)
  • Spinocerebellar ataxia with epilepsy (SCAE)
  • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS)
  • Fabry disease
  • Tangier disease
  • Kennedy’s disease
  • Hereditary sensory and autonomic neuropathies
  • Hereditary sensory neuropathies

 

Inflammatory/autoimmune:

  • Sjogren syndrome
  • Systemic lupus erythematous
  • Rheumatoid arthritis
  • MCTD
  • Celiac disease

 

Infectious:

  • AIDS
  • HTLV1
  • EBV
  • Zika virus
  • Enterovirus
  • VZV
  • Tabes dorsalis
  • Leprosy

 

Paraneoplastic/paraproteinemic:

  • Paraneoplastic sensory neuronopathy (carcinoma, lymphoma or sarcoma)

 

Drug-induced:

  • Pyridoxine
  • Platinum-based chemotherapy
  • Checkpoint inhibitors

 

Primary/idiopathic:

  • Idiopathic sensory neuronopathy

 

Sporadic degenerative:

  • Facial onset sensory and motor neuronopathy (FOSMN)

Radiculopathy

Non-neoplastic compressive:

  • Herniated intervertebral disk
  • Spondylosis
  • Paget’s disease
  • Dural ectasia
  • Hypertrophied spinal ligaments
  • Spinal canal stenosis
  • Arachnoid cyst
  • Epidermoid cyst
  • Dermoid cyst
  • Spinal epidural hematoma
  • Spinal subdural hematoma
  • Spinal arteriovenous malformation

 

Physical cause:

  • Vertebral body compression fracture
  • root avulsion
  • root contusion
  • Penetrating root injury
  • Radiation
  • Iatrogenic (including spinal surgery and anesthesia)

 

Infectious:

  • Pott’s disease
  • Lyme disease
  • Viral radiculitis (VZV, HSV, HIV, CMV, EBV, HTLV1)
  • Spinal epidural abscess
  • Syphilis
  • Schistosomiasis
  • Cryptococcosis
  • Tuberculoma
  • Tuberculous meningitis
  • Vertebral osteomyelitis

 

Neoplastic:

  • Nerve sheath tumors (Schwannoma, Neurofibroma, malignant primary nerve sheath tumor)
  • Extradural spinal metastasis
  • Intradural spinal metastasis
  • Leptomeningeal carcinomatosis
  • Leukemic meningitis
  • Lymphomatous meningitis
  • Spinal cord tumors (astrocytoma, ependymoma, hemangioblastoma)
  • Spinal meningioma
  • Lipoma
  • Paraganglioma
  • Primary bone tumors of the spine

 

Acquired metabolic:

  • Diabetic radiculopathy
  • Chronic renal failure
  • Hepatic failure
  • Adrenal insufficiency

 

Inflammatory/autoimmune:

  • Guillaine-Barre syndrome
  • CIDP and its variants (CISP)
  • Rheumatoid arthritis
  • Sjogren syndrome
  • Eosinophilic granulomatosis with polyangiitis
  • Granulomatosis with polyangiitis
  • Ankylosing spondylitis
  • Polyarteritis nodosa
  • Arachnoiditis
  • Pachymeningitis
  • Sarcoidosis
  • Systemic lupus erythematous

 

Paraneoplastic/paraproteinemic:

  • Amyloidosis
  • Essential mixed cryoglobulinemia

 

Hereditary:

  • Achondroplasia
  • Neurofibromatosis type 1

 

Congenital/developmental:

  • Tethered cord
  • Spina bifida
  • Meningomyelocele

Brachial plexopathy

Neoplastic:

  • Pancoast tumor
  • Metastatic plexopathy
  • Neck tumors
  • Nerve sheath tumors

 

Acquired metabolic:

  • Diabetic plexopathy

 

Inflammatory/autoimmune:

  • Neuralgic amyotrophy
  • Multifocal motor neuropathy
  • Rheumatoid arthritis
  • Polyarteritis nodosa
  • MADSAM
  • Nonsystemic vasculitic neuropathy
  • Sarcoidosis
  • Eosinophilic granulomatosis with polyangiitis
  • Granulomatosis with polyangiitis
  • Microscopic polyangiitis
  • Systemic lupus erythematous
  • Classic postoperative paralysis

 

Infectious:

  • Herpes zoster brachial plexus neuritis
  • Lyme disease
  • Ehrlichiosis

 

Non-neoplastic compressive:

  • Rucksack palsy
  • Cervical rib syndrome
  • Crutch palsy

 

Physical cause:

  • Traumatic brachial plexopathy
  • Radiation plexopathy
  • Birth trauma (Erb’s pasly, Klumpke’s palsy)

 

Paraneoplastic/paraproteinemic:

  • Amyloidosis

 

Hereditary:

  • Hereditary neuralgic amyotrophy
  • Hereditary neuropathy with liability to pressure palsies
  • Neurofibromatosis type 1

Lumbosacral plexopathy

Acquired metabolic:

  • Diabetic amyotrophy

 

Neoplastic:

  • Metastatic plexopathy
  • Retroperitoneal tumors
  • Nerve sheath tumors

 

Non-neoplastic compressive:

  • Retroperitoneal hematoma
  • Endometriosis
  • Obstetrical lumbar plexus injury

 

Inflammatory/autoimmune:

  • Rheumatoid arthritis
  • Polyarteritis nodosa
  • MADSAM
  • Nonsystemic vasculitic neuropathy
  • Sarcoidosis
  • Eosinophilic granulomatosis with polyangiitis
  • Granulomatosis with polyangiitis
  • Microscopic polyangiitis
  • Systemic lupus erythematous
  • Multifocal motor neuropathy
  • Lumbosacral plexitis

 

Infectious:

  • Herpes zoster lumbosacral plexus neuritis
  • Lyme disease
  • Retroperitoneal abscess
  • Psoas abscess
  • Tuberculosis

 

Physical cause:

  • Radiation plexopathy
  • Traumatic lumbosacral plexopathy

 

Paraneoplastic/paraproteinemic:

  • Amyloidosis

 

Hereditary:

  • Hereditary neuropathy with liability to pressure palsies
  • Neurofibromatosis type 1

Mononeuropathy

Non-neoplastic compressive:

  • External compression
  • Entrapment neuropathies (carpal tunnel syndrome, cubital tunnel syndrome, ulnar neuropathy at the Guyon canal, meralgia paresthetica, common peroneal neuropathy at the fibular head, tarsal tunnel syndrome)
  • Compression by soft tissue hematoma, cyst or aneurysm
  • Compartment syndrome

 

Acquired metabolic:

  • Diabetes mellitus
  • Hypothyroidism
  • Acromegaly

 

Inflammatory/autoimmune:

  • Neuralgic amyotrophy
  • Mononeuritis multiplex (see the causes of multiple mononeuropathy)
  • Multifocal motor neuropathy
  • MADSAM

 

Neoplastic:

  • Nerve sheath tumors
  • Adjacent bone tumors
  • Adjacent soft tissue tumors

 

Physical causes:

  • Peripheral nerve contusion, stretch or penetrating injury
  • Electrical injury
  • Burns
  • Cold injury
  • Radiation
  • Iatrogenic (surgery, injection, malpositioning,…)

 

Vascular:

  • Peripheral arterial disease

 

Infectious:

  • Adjacent soft tissue infection
  • Shingles
  • Leprosy
  • Lyme disease

 

Hereditary:

  • Neurofibromatosis type 1
  • Hereditary neuropathy with liability to pressure palsies

 

Toxic:

  • Lead

 

Paraneoplastic/paraproteinemic:

  • Amyloidosis

Multiple mononeuropathy

Inflammatory/autoimmune:

  • Rheumatoid arthritis
  • Systemic lupus erythematous
  • Eosinophilic granulomatosis with polyangiitis
  • Granulomatosis with polyangiitis
  • Polyarteritis nodosa
  • MADSAM
  • Sjogren syndrome
  • Systemic sclerosis
  • Nonsystemic vasculitic neuropathy
  • Hypersensitivity vasculitis
  • Sarcoidosis
  • Neuralgic amyotrophy
  • Sensory perineuritis
  • Wartenberg migratory sensory neuritis
  • Microscopic polyangiitis
  • Mixed connective tissue disease
  • Behcet’s disease
  • Giant cell arteritis
  • Henoch-Schonlein syndrome
  • Multifocal motor neuropathy
  • Celiac disease
  • ITP
  • GVHD

 

Acquired metabolic:

  • Diabetes mellitus

 

Infectious:

  • Viral mononeuritis multiplex (HAV,HBV, HCV, HIV, HSV, CMV, VZV, Parvovirus B-19)
  • Lyme disease
  • Leprosy

 

Paraneoplastic/paraproteinemic:

  • Amyloidosis
  • Essential mixed cryoglobulinemia

 

Hereditary:

  • Hereditary neuropathy with liability to pressure palsies
  • Neurofibromatosis type 1
  • Tangier disease

 

Toxic:

  • Amphetamine
  • Gasoline

 

Neoplastic:

  • Nerve sheath tumors
  • Perineural spread in malignancies (lymphoma, leukemia)

Polyneuropathy

Acquired metabolic:

  • Diabetes mellitus (including treatment-induced neuropathy)
  • Chronic renal failure
  • Hyperlipidemia
  • Vitamin B12 deficiency
  • Folate deficiency
  • Copper deficiency
  • Thiamine deficiency
  • Vitamin B6 deficiency
  • Pellagra
  • Vitamin E deficiency
  • Hypoglycemia
  • Hypothyroidism
  • Acromegaly
  • Gigantism
  • Hepatic failure
  • Critical illness polyneuropathy

 

Inflammatory/autoimmune:

  • Eosinophilic granulomatosis with polyangiitis
  • Granulomatosis with polyangiitis
  • Microscopic polyangiitis
  • Cryoglobulinemic vasculitis
  • Sjogren syndrome
  • Sarcoidosis
  • Celiac disease
  • Behcet’s disease
  • Guillaine-Barre syndrome and variants (AMAN, AMSAN, MFS, PCB, paraparetic, pandysautonomia)
  • CIDP and its variants (CISP, sensory CIDP, motor CIDP, MADSAM, DADS)
  • Systemic lupus erythematous
  • Rheumatoid arthritis
  • Systemic sclerosis
  • Polyarteritis nodosa
  • Nonsystemic vasculitic neuropathy
  • Mixed connective tissue disease
  • Multifocal motor neuropathy
  • Wartenberg migratory sensory neuritis
  • Graft-versus-host disease

 

Infectious:

  • AIDS
  • Hepatitis C
  • Lyme disease
  • Leprosy
  • Diphtheria
  • Tabes dorsalis
  • Whipple disease

 

Hereditary:

  • Charcot-Marie-Tooth disease
  • Roussy-Levy syndrome
  • Dejerine-Sottas syndrome
  • Congenital hypomyelinating neuropathy
  • Hereditary neuropathy with liability to pressure palsies
  • Hereditary motor and sensory neuropathy
  • Distal hereditary motor neuronopathy
  • Hereditary sensory and autonomic neuropathy
  • Hereditary sensory neuropathy
  • Congenital insensitivity to pain
  • Marsili syndrome
  • Sodium channelopathy-related small fiber neuropathy
  • Primary erythromelalgia
  • Slowed nerve conduction velocity
  • Giant axonal neuropathy
  • Inherited metabolic disorders:
    • Neuropathy, ataxia, retinitis pigmentosa syndrome (NARP)
    • Mitochondrial recessive ataxia syndrome (MIRAS)
    • Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (SANDO)
    • Spinocerebellar ataxia with epilepsy (SCAE)
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
    • Myoclonic epilepsy with ragged red fibers (MERRF)
    • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
    • Multiple symmetric lipomatosis with or without peripheral neuropathy
    • Abetalipoproteinemia
    • Fabry disease
    • Tangier disease
    • Refsum disease
    • Adrenoleukodystrophy
    • Adrenomyeloneuropathy
    • Krabbe disease
    • Metachromatic leukodystrophy
    • Neuronal intranuclear inclusion diseases
    • Cerebrotendinous xanthomatosis
    • Cockayne syndrome types A & B
    • Niemann-Pick disease types C & D
    • Tyrosinemia type I
    • Pyruvate dehydrogenase deficiency
    • Biotin-responsive childhood-onset peripheral motor neuropathy
    • Allgrove syndrome
    • Porphyric neuropathies:
      • Acute hepatic porphyria
      • Acute intermittent porphyria
      • Hereditary coproporphyria
      • Porphyria variegata
  • Familial amyloid polyneuropathies:
    • Transthyretin amyloidosis
    • Amyloidosis, Finnish type
    • Apolipoprotein A-1-related amyloidosis
  • Degenerative ataxias:
    • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS)
    • Friedreich ataxia
    • Ataxia with vitamin E deficiency
    • Spinocerebellar ataxias
    • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
    • Ataxia-oculomotor apraxia
    • Ataxia-telangiectasia
    • Ataxia-telangiectasia-like disorder
    • Spinocerebellar ataxia with axonal neuropathy
    • Marinesco-Sjögren syndrome
  • Spastic paraplegias:
    • Spastic paraplegia type 4
    • Spastic paraplegia type 7

 

Paraneoplastic/paraproteinemic:

  • Paraneoplastic polyneuropathy
  • Amyloidosis
  • Monoclonal gammopathy of undetermined significance (MGUS)
  • Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome (CANOMAD)
  • Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA)
  • Essential mixed cryoglobulinemia
  • Multiple myeloma
  • Osteosclerotic myeloma
  • POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal plasma cell disorder, Skin changes) syndrome
  • Waldenstrom’s macroglobulinemia
  • Anti-MAG neuropathy
  • GALOP syndrome

 

Drug-induced:

  • Chemotherapy agents
  • Checkpoint inhibitors
  • Tumor necrosis factor inhibitors
  • Colchicine
  • Gold
  • Chloroquine
  • Tacrolimus
  • Etanercept
  • Cyclosporine
  • Allopurinol
  • Sulfasalazine
  • Infliximab
  • Amiodarone
  • Hydralazine
  • Perhexiline
  • Statins
  • Propafenone
  • Isoniazid
  • Metronidazole
  • Nitrofurantoin
  • Nucleoside analogues
  • Fluoroquinolones
  • Chloramphenicol
  • Dapsone
  • Ethambutol
  • Linezolid
  • D-penicillamine
  • Phenytoin
  • Pyridoxine

 

Toxic:

  • Alcohol
  • Heavy metals (Arsenic, Lead, Thallium, Mercury)
  • NO
  • Vacor
  • Hexane
  • Amphetamine
  • Buckthorn
  • Ciguatera
  • Shellfish
  • Acrylamide
  • Amygdalin
  • Carbon disulfide
  • Dichlorophenoxyacetic acid
  • Ergot
  • Ethylene oxide
  • Gasoline
  • Isopropanol
  • Glue
  • Methyl bromide
  • Methylene chloride
  • Nitrogen dioxide
  • Organophosphates
  • Perchloroethylene
  • Toluene
  • Trichloroethylene
  • Xylene
  • Organophosphates
  • Tick paralysis

 

Hematologic:

  • Polycythemia vera

 

Physical causes:

  • Radiation

Neuromuscular junction disorders

Inflammatory/autoimmune:

  • Myasthenia gravis
  • Lambert-Eaton myasthenic syndrome
  • Transient neonatal myasthenia gravis

 

Hereditary:

  • Presynaptic congenital myasthenic syndromes
  • Synaptic congenital myasthenic syndromes
  • Postsynaptic congenital myasthenic syndromes
  • Fast channel syndrome
  • Slow channel syndrome
  • Congenital myasthenic syndromes with defect in glycosylation

 

Toxic:

  • Botulism
  • Black widow spider venom
  • Organophosphates
  • Scorpion venom
  • Snake venom
  • Tick paralysis

 

Drug-induced:

  • Checkpoint inhibitors
  • Magnesium
  • D-penicillamine
  • Curare

Myopathy

Inflammatory/autoimmune:

  • Dermatomyositis
  • Anti-synthetase syndrome
  • Necrotizing autoimmune myopathy
  • Inclusion body myositis
  • Rheumatoid arthritis
  • Systemic sclerosis
  • Systemic lupus erythematous
  • Sarcoidosis
  • Eosinophilic myositis/fasciitis
  • Polymyalgia rheumatica
  • Myositis ossificans
  • Polymyositis

 

Acquired metabolic:

  • Hypothyroidism
  • Hyperthyroidism
  • Thyrotoxic periodic paralysis
  • Hypokalemic myopathy
  • Secondary hypokalemic periodic paralysis
  • Critical illness myopathy
  • Hypophosphatemia
  • Cushing syndrome
  • Adrenal insufficiency
  • Hypoparathyroidism
  • Hyperparathyroidism
  • Osteomalacia
  • Acromegaly
  • Hypopituitarism
  • Hyperaldosteronism

 

Miscellaneous conditions:

  • Rhabdomyolysis
  • Compartment syndrome
  • Disuse atrophy

 

Drug-induced:

  • Statins
  • Fibrates
  • Corticosteroids
  • Cyclosporine
  • Tacrolimus
  • Propofol
  • Labetalol
  • Procainamide
  • Phenytoin
  • Interferon alfa
  • Tumor necrosis factor inhibitors
  • Imatinib
  • Hydroxyurea
  • Amiodarone
  • Chloroquine
  • Hydroxychloroquine
  • Colchicine
  • Vincristine
  • Zidovudine
  • Telbivudine
  • Diuretics
  • Laxatives
  • Amphotericin
  • Lithium
  • Emetine
  • Febuxostat
  • Finasteride
  • Isotretinoin
  • Levetiracetam
  • Cimetidine
  • Omeprazole
  • Checkpoint inhibitors
  • D-penicillamine
  • L-tryptophan
  • L-dopa
  • Pentazocine
  • Nondepolarizing neuromuscular blocking agents

 

Toxic:

  • Alcohol
  • Toluene
  • Cocaine
  • Heroin
  • Amphetamines
  • Phencyclidine
  • Licorice (excessive use)

 

Paraneoplastic/paraproteinemic:

  • Cancer associated myositis
  • Amyloidosis

 

Infectious:

  • Pyomyositis
  • Viral myositis (Influenza, HIV, HTLV1, Covid-19)
  • Parasitic myositis (Trichinosis, Cysticercosis, Toxoplasmosis)
  • Fungal myositis (Candidiasis)

 

Hereditary:

  • Muscular dystrophies:
    • Dystrophinopathies (Becker muscular dystrophy, Duchenne muscular dystrophy and symptomatic female carriers)
    • Myotonic dystrophy  (Steinert disease, PROMM & congenital myotonic dystrophy)
    • Emery-Dreifuss muscular dystrophy
    • Facioscapulohumeral muscular dystrophy
    • Oculopharyngeal muscular dystrophy
    • Limb-girdle muscular dystrophies
    • Muscular dystrophy with cardiomyopathy and triangular tongue
    • Scapuloperoneal muscular dystrophy
  • Congenital muscular dystrophies:
    • Merosin deficient congenital muscular dystrophy
    • Collagen VI disorders (Bethlem myopathy, Ullrich congenital muscular dystrophy)
    • COL12A1-related congenital muscular dystrophy
    • Dystroglycanopathies (Fukuyama type, Walker-Warburg syndrome, Muscle-eye-brain disease)
    • Rigid spine syndrome
    • Congenital myosclerosis
    • Congenital muscle dystrophy with mitochondrial structural abnormalities (megaconial type)
  • Congenital myopathies:
    • Nemaline myopathy
    • Congenital fiber-type disproportion myopathy
    • Centronuclear myopathy
    • Myotubular myopathy
    • Central core disease
    • Multiminicore disease
    • KingDenborough syndrome
    • Myofibrillar myopathy
    • Cap myopathy
    • Zebra body myopathy
    • Myosin storage myopathy
    • Reducing body myopathy
    • Spheroid body myopathy
    • Sarcotubular myopathy
  • Distal myopathies:
    • Miyoshi muscular dystrophy
    • Tibial muscular dystrophy (Udd myopathy)
    • GNE Myopathy
    • Laing distal myopathy
    • Welander distal myopathy
    • Late onset distal myopathy (Markesbery-Griggs)
    • Distal Myopathy with VCP defect
    • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
    • Oculopharyngodistal myopathy
    • Distal myopathy with rimmed vacuoles
    • Distal myopathy, Tateyam type
    • X-linked myopathy with excessive autophagy
  • Metabolic myopathies:
    • Glycogen storage diseases:
      • Glycogen storage disease type 0
      • Glycogen storage disease type II (Pompe disease)
      • Glycogen storage disease type III (Forbes disease)
      • Glycogen storage disease type IV (Andersen disease)
      • Glycogen storage disease Type V (McArdle)
      • Glycogen storage disease Type VII (Tarui disease)
      • Glycogen storage disease type IX
      • Glycogen storage disease type X
      • Glycogen storage disease type XI
      • Glycogen storage disease type XII
      • Glycogen storage disease type XIII
      • Glycogenosis type XIV
      • Glycogenosis type XV
      • Polyglucosan storage myopathy
      • Danon disease
      • Myopathy due to lactate transporter defect
    • Lipid storage disease:
      • Carnitine palmitoyl-transferase II deficiency
      • Primary systemic carnitine deficiency
      • Primary muscle carnitine deficiency
      • Carnitine acylcarnitine translocase deficiency
      • Multiple acyl-CoA dehydrogenase deficiency (MADD)
      • Short chain acyl-CoA dehydrogenase deficiency
      • Medium chain acyl-CoA dehydrogenase deficiency
      • Long chain acyl-CoA dehydrogenase deficiency
      • Very long chain acyl-CoA dehydrogenase deficiency
      • Mitochondrial trifunctional protein deficiency
      • Mitochondrial complex I deficiency, nuclear type 20
      • Neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome)
      • Neutral lipid storage disease with myopathy without ichthyosis
      • Acute Recurrent myoglobinuria (AR)
      • Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency
      • Riboflavin-responsive exercise intolerance
      • Lipin deficiency
    • Mitochondrial myopathies:
      • Isolated mitochondrial myopathy
      • Mitochondrial recessive ataxia syndrome (MIRAS)
      • Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (SANDO)
      • Spinocerebellar ataxia with epilepsy (SCAE)
      • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
      • Myoclonic epilepsy with ragged red fibers (MERRF)
      • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
      • Kearns-Sayre syndrome (KSS)
      • Neuropathy, ataxia, retinitis pigmentosa syndrome (NARP)
      • Chronic progressive external ophthalmoplegia (CPEO)
      • Myopathy, lactic acidosis, and sideroblastic anemia (MLASA)
      • Mitochondrial myopathy with lactic acidosis (MMLA)
      • Primary coenzyme Q10 deficiency
      • Isolated cytochrome C oxidase deficiency
      • Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
      • Isolated ATP synthase deficiency
      • Isolated complex III deficiency
      • Isolated complex I deficiency
      • Myopathy and diabetes mellitus
    • Disorders of purine metabolism
      • Myoadenylate deaminase deficiency
  • Channelopathies and related disorders:
    • Hyperkalemic periodic paralysis
    • Hypokalemic periodic paralysis type
    • Andersen-Tawil syndrome
    • Thyrotoxic periodic paralysis
    • Myotonia congenita , dominant (Thomsen)
    • Myotonia congenita, recessive (Becker)
    • Paramyotonia congenita
    • Potassium aggravated myotonia
    • Rippling muscle disease
    • Schwartz-Jampel syndrome
    • Brody disease
    • Malignant hyperthermia susceptibility
    • Tubular aggregate myopathy
    • Vacuolar myopathy with CASQ1 aggregates