Myopathy

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Myopathy
Myopathy gross.jpg
Myopathy: Metabolic {Acid maltase)
Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology
ICD-10 G71 - G72
ICD-9 359.4 - 359.9
DiseasesDB 8723
eMedicine emerg/328 
MeSH D009135

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List of terms related to Myopathy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

In medicine, a myopathy is a neuromuscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness. "Myopathy" simply means muscle disease (myo- Greek μυσ "muscle" + pathy Greek "suffering"). This meaning implies that the primary defect is within the muscle, as opposed to the nerves ("neuropathies" or "neurogenic" disorders) or elsewhere (e.g., the brain etc.). Muscle cramps, stiffness, and spasm can also be associated with myopathy.

Classes

Because myopathy is such a general term, there are several classes of myopathy.... (ICD-10 codes are provided where available.)

Causes

Life Threatening Causes

Common Causes

Causes by Organ System

Cardiovascular Bezafibrate, Neutral lipid storage disease
Chemical/Poisoning Brown recluse spider poisoning 
Dental No underlying causes
Dermatologic Dermatomyositis, Malignant hyperthermia
Drug Side Effect Atorvastatin, Chloroquine, Clevudine, Colchicine, Efavirenz, Ethanol, Niacin, Phencyclidine  , Pravastatin, Prednisolone, Rosuvastatin, Simvastatin, Steroids, Telbivudine, Zidovudine
Ear Nose Throat No underlying causes
Endocrine Addison's disease, Amyloidosis, Carnitine deficiency, Cushing's disease, Forbes disease, Hyperparathyroidism, Hyperthyroidism, Hypothyroidism, Thyroid eye disease  , Type iii glycogen storage disease 
Environmental Malignant hyperthermia
Gastroenterologic Forbes disease, Glycogen branching deficiency  , Glycogen storage diseases, Glycogenosis
Genetic Aconitase deficiency  , Aldolase a deficiency  , Alpha-mannosidase deficiency, Amish nemaline myopathy, Anoctaminopathy, Arthrogryposis , Barth syndrome, Bethlem myopathy, Calpainopathy, Carey-fineman-ziter syndrome, Carnitine palmitoyltransferase 2 deficiency, Chanarin-dorfman disease, Christian syndrome 1, Cytochrome-c oxidase deficiency, Freeman-sheldon syndrome  , Fukuyama congenital muscular dystrophy, Gigantism  , Glutaric acidemia type 2, Glycerol kinase deficiency, Glycogen branching deficiency  , Glycogen storage diseases, Glycogenosis , Hereditary fibrosing poikiloderma , Kearns-sayre syndrome  , Lactate dehydrogenase deficiency, Marinesco-sjogren-garland syndrome, Melas  , Merrf, Mitochondrial myopathy, Mitochondrial trifunctional protein deficiency, Miyoshi muscular dystrophy 2, Molybdenum cofactor deficiency, Myoneurogastrointestinal encephalopathy syndrome, Myosin storage myopathy, Myotonia congenita, Myotonic dystrophy, Periodic paralysis, Phosphogylcerate mutase 2 deficiency, Plasma membrane carnitine transporter deficiency, Short chain acyl-coa dehydrogenase deficiency, Stormorken syndrome, Subacute necrotising encephalomyelopathy, Tel hashomer camptodactyly syndrome, Tk2-related mitochondrial dna depletion syndrome, Triosephosphate isomerase deficiency, Udd-markesbery tardive muscular dystrophy, Walker-warburg syndrome, Welander muscular dystrophy, Wieacker-wolff syndrome, Woods black norbury syndrome, Xanthine oxidase deficiency
Hematologic Chronic hypokalemia, Diabetes, Hypercalcemia, Hyperkalemia, Hypermagnesemia, Hypocalcaemia, Hypokalaemia, Hyponatremia, Long chain hydroxyacyl-coa dehydrogenase deficiency
Iatrogenic No underlying causes
Infectious Disease Hiv-1 disease, Pork tapeworm 
Musculoskeletal/Orthopedic Aconitase deficiency  , Becker muscular dystrophy, Brody myopathy, Caveolin-3 related distal myopathy, Congenital muscular dystrophy, Desmin-related myopathy, Distal myopathy 2, Duchenne muscular dystrophy, Emery-dreifuss muscular dystrophy, Familial partial lipodystrophy type 2, Laing distal myopathy, Lama2-related muscular dystrophy, Limb girdle muscular dystrophy, Mitochondrial myopathy, Mitochondrial trifunctional protein deficiency, Miyoshi muscular dystrophy 2, Muscular dystrophy, Myoneurogastrointestinal encephalopathy syndrome, Myosin storage myopathy, Myotonia congenita, Myotonic dystrophy, Nonaka myopathy, Osteomalacia, Polymyositis, Rigid spine muscular dystrophy, Rippling muscle disease , Salih myopathy, Spheroid body myopathy  , Tubular aggregate myopathy, Ullrich congenital muscular dystrophy, Welander muscular dystrophy
Neurologic Arnold stickler bourne syndrome  , Becker muscular dystrophy, Borud syndrome  , Lundberg ii syndrome  , Muscle-eye-brain disease, Polyneuropathy , Salih myopathy
Nutritional/Metabolic Adenosine monophosphate deaminase deficiency, Chronic hypokalemia, Diabetes, Hypercalcemia, Hyperkalemia, Hypermagnesemia, Hypocalcaemia, Rickets
Obstetric/Gynecologic No underlying causes
Oncologic Malignancy
Ophthalmologic Muscle-eye-brain disease, Progressive external ophthalmoplegia, Thyroid eye disease 
Overdose/Toxicity Alcoholism
Psychiatric No underlying causes
Pulmonary Sarcoidosis
Renal/Electrolyte Hypokalaemia, Hyponatremia, Proximal renal tubular acidosis
Rheumatology/Immunology/Allergy Amyloidosis, Dermatomyositis, Polymyositis, Sarcoidosis
Sexual Hiv-1 disease
Trauma No underlying causes
Urologic No underlying causes
Miscellaneous No underlying causes

Causes in Alphabetical Order

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3

Differential Diagnosis of Muscle Weakness

To review the differential diagnosis of Proximal muscle weakness, click here.

To review the differential diagnosis of Distal muscle weakness, click here.

To review the differential diagnosis of inflammatory myopathy, click here.

To review the differential diagnosis of Muscle weakness and Fever, click here.

To review the differential diagnosis of Muscle weakness and Myalgia, click here.

To review the differential diagnosis of Muscle weakness and Gait abnormality, click here.

To review the differential diagnosis of Muscle weakness and Neuropathy, click here.

To review the differential diagnosis of Muscle weakness and stiffness, click here.

To review the differential diagnosis of Muscle weakness and Myoglobinuria, click here.

To review the differential diagnosis of Muscle weakness and Atrophy, click here.

Organ system Disease Symptoms History Physical

Examination

Diagnosis
Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Medication−induced Corticosteroids[1] Variable Proximal + +
  • Positive h/o medications
  • Facial and sphincter muscles are usually spared
  • Normal
  • Normal
  • Normal
Statins[2] 60+ Proximal + −/+(Rhabdomyolysis)
  • N/A
  • Positive h/o medications
  • H/o other medication use
  • ↑↑ Liver enzymes
  • ↑↑
  • Necrosis
  • Degeneration, and regeneration of fibers
  • Phagocytic infiltration
  • Normal
Alcohol[3] Variable Proximal + +/−
  • Monspecific and are normal in many patients
  • Normal or ↑↑
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Endocrine Cushing's disease[4] 25 −45 Proximal +
  • N/A
  • Normal
  • Atrophy of type 2 muscle fibers, especially type 2B
Normal
Adrenal insufficiency[5] 30−50 years Proximal + +
  • Normal
  • Normal
  • Normal
Hyperaldosteronism with myopathy[6] 50 Proximal
&
distal
+

Rhabdomyolysis

  • Normal
  • Normal
  • Normal
Hyperthyroidism[7] 40 Proximal + + +
  • ↑↑
  • Non specific
Hypothyroidism[8] 55 Proximal + + + + + Rhabdomyolysis
  • ↑↑
  • Nonspecific 
  • Normal
Diabetic infraction[9] 45  Proximal + + + +
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Inflammatory/ Rheumatologic Dermatomyositis[10] 40s−50s
Can affect children
Proximal + + +
  • ↑↑
  • Perimysial mononuclear infiltrate
Polymyositis[11] > 18 years Proximal + + +
  • N/A
  • N/A
  • ↑↑
  • Endomysial mononuclear infiltrate
  • Patchy necrosis
Inclusion body myositis[12] 50s Proximal
&
distal
  • N/A
  • Antibodies to cytoplasmic 5'−nucleotidase
  • ↑↑
Fibromyalgia[13] 40−50s Generalized +
  • Normal
  • Normal
  • Normal
  • Normal
Polymyalgia Rheumatica[14] 50s Diffuse + + +
  • History of joints stiffness, worse in the morning
  • Restricted shoulder motion
  • Normal
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Genetic Becker muscular dystrophy[15] <13yrs Proximal + + +
  • Positive Grower sign
  • ↑↑
    • Muscle fibril degeneration, regeneration
    • Isolated fiber hypertrophy
    • Muscle replacement with fat and connective tissue
Duchenne muscular dystrophy[16] <13 yrs Proximal + + +
  • Early onset
  • Positive Grower sign
  • ↑↑
Limb−girdle muscular dystrophies[17] <15 yrs Proximal + + + +
  • LMNA gene
  • CAV3 gene
  • ↑↑
  • N/A
Myotonic dystrophy[18] <18 years Proximal
&
distal
+ + +
  • Positive family history
  • Muscles often contract and are unable to relax
  • Mutations in the DMPK gene
  • N/A
  • N/A
Glycogen storage disease[19] Variable Proximal +
  • ↑↑
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Infectious Lyme disease[20] Variable Proximal + + +/− +
  • H/o tick bite
  • Hiking trip
  • Clinical diagnosis
  • +Serology
  • N/A
  • N/A
  • N/A
Influenza[21] Variable Proximal and Distal + + + +
  • Cold weather
  • H/o Ill contacts
  • Muscle weakness, tenderness, and swelling.
  • ↑↑ Liver enzymes
  • Positive PCR
  • ↑↑
  • N/A
  • N/A
Polio[22] <5 yrs Proximal + + +
  • History of skipped immunization.
  • Isolation from pharyngealsecretions, CSF
  • Positive serology
  • N/A
  • N/A
  • Neurological pattern
Syphilis[23] Variable Negative + +
  • History of risk factors (MSM, unprotected sex, multiple sex partners)
  • N/A
  • N/A
  • N/A
Pyomyositis[24] Variable Proximal
&
Distal
+ + +
    • Muscles are painful, swollen, tender, and indurated.
    • Depending on the site of involvement, it may mimic appendicitis (psoas muscle), septic arthritis of the hip (iliacus muscle), or epidural abscess (piriformis muscle).
  • Leukocytosis
  • Elevated ESR
  • N/A
  • N/A
  • N/A
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Neurologic ALS[25] >35 Proximal
&
Distal
  • Distal
+ + +
  • N/A
  • Clinical diagnosis
  • Normal
  • Nonspecific findings of chronic denervation with reinnervation
  • Neuropathic
Stroke[26] >65 Proximal
&
distal
+ + +
  • Weakness of the involved arm
  • Head CT
  • Normal
  • Normal
  • Neuropathic
GBS[27] 18 −350 Proximal + +
  • Weakness of lower extremities followed by upper extremities
  • Cytologic albumin ratio
  • Normal
  • Normal
  • Neuropathic
Multiple Sclerosis[28] 30's Proximal
&
distal
+ +
  • Attacks or exacerbation
    • Localized weakness
    • Focal sensory disturbances
    • Hyper reactive reflexes
    • Increased tone or stiffness
  • Head CT ologo−clonal bands
  • Normal
  • N/A
  • Neuropathic
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Neuromuscular Botulinum[29] Variable Distal + +
  • H/O food exposure
  • +Toxin
  • Normal
  • N/A
  • Myopathic
Lambert−Eaton syndrome[30] Variable Distal + + +
  • Weakness of the bulbar muscles
  • Ocular
  • Limb weakness
  • Weaknessa is often relieved temporarily after exertion or physical exercise.
  • Antibodies against voltage−gated calcium channels 
Myasthenia gravis[31] Variable Proximal + + +
  • Ocular
  • Bulbar 
  • Limb weakness
  • Isolated neck, limbs and respiratory weakness
  • Weakness often worsens with activity

Treatment

Because different types of myopathies are caused by many different pathways, there is no single treatment for myopathy. Treatments range from treatment of the symptoms to very specific cause-targeting treatments. Drug therapy, physical therapy, bracing for support, surgery, and even acupuncture are current treatments for a variety of myopathies.

Prognosis

The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.

References

  1. Gupta A, Gupta Y (September 2013). "Glucocorticoid-induced myopathy: Pathophysiology, diagnosis, and treatment". Indian J Endocrinol Metab. 17 (5): 913–6. doi:10.4103/2230-8210.117215. PMC 3784879. PMID 24083177.
  2. Tomaszewski M, Stępień KM, Tomaszewska J, Czuczwar SJ (2011). "Statin-induced myopathies". Pharmacol Rep. 63 (4): 859–66. PMID 22001973.
  3. Preedy VR, Adachi J, Ueno Y, Ahmed S, Mantle D, Mullatti N, Rajendram R, Peters TJ (November 2001). "Alcoholic skeletal muscle myopathy: definitions, features, contribution of neuropathy, impact and diagnosis". Eur. J. Neurol. 8 (6): 677–87. PMID 11784353.
  4. Sharma V, Borah P, Basumatary LJ, Das M, Goswami M, Kayal AK (July 2014). "Myopathies of endocrine disorders: A prospective clinical and biochemical study". Ann Indian Acad Neurol. 17 (3): 298–302. doi:10.4103/0972-2327.138505. PMC 4162016. PMID 25221399.
  5. Ruff RL, Weissmann J (August 1988). "Endocrine myopathies". Neurol Clin. 6 (3): 575–92. PMID 3065602.
  6. Sambrook MA, Heron JR, Aber GM (April 1972). "Myopathy in association with primary hyperaldosteronism". J. Neurol. Neurosurg. Psychiatry. 35 (2): 202–7. PMC 494037. PMID 5037033.
  7. Li Q, Liu Y, Zhang Q, Tian H, Li J, Li S (July 2017). "Myopathy in hyperthyroidism as a consequence of rapid reduction of thyroid hormone: A case report". Medicine (Baltimore). 96 (30): e7591. doi:10.1097/MD.0000000000007591. PMC 5627834. PMID 28746208.
  8. Khaleeli AA, Griffith DG, Edwards RH (September 1983). "The clinical presentation of hypothyroid myopathy and its relationship to abnormalities in structure and function of skeletal muscle". Clin. Endocrinol. (Oxf). 19 (3): 365–76. PMID 6627693.
  9. Horton WB, Taylor JS, Ragland TJ, Subauste AR (2015). "Diabetic muscle infarction: a systematic review". BMJ Open Diabetes Res Care. 3 (1): e000082. doi:10.1136/bmjdrc-2015-000082. PMC 4410119. PMID 25932331.
  10. Dalakas MC (1991). "Polymyositis, dermatomyositis and inclusion-body myositis". N Engl J Med. 325 (21): 1487–98. doi:10.1056/NEJM199111213252107. PMID 1658649.
  11. Dalakas MC (1991). "Polymyositis, dermatomyositis and inclusion-body myositis". N Engl J Med. 325 (21): 1487–98. doi:10.1056/NEJM199111213252107. PMID 1658649.
  12. Dalakas MC (1991). "Polymyositis, dermatomyositis and inclusion-body myositis". N Engl J Med. 325 (21): 1487–98. doi:10.1056/NEJM199111213252107. PMID 1658649.
  13. Ohara N, Katada S, Yamada T, Mezaki N, Suzuki H, Suzuki A, Hanyu O, Yoneoka Y, Kawachi I, Shimohata T, Kakita A, Nishizawa M, Sone H (2016). "Fibromyalgia in a Patient with Cushing's Disease Accompanied by Central Hypothyroidism". Intern. Med. 55 (21): 3185–3190. doi:10.2169/internalmedicine.55.5926. PMC 5140872. PMID 27803417.
  14. Myklebust G, Gran JT (1996). "A prospective study of 287 patients with polymyalgia rheumatica and temporal arteritis: clinical and laboratory manifestations at onset of disease and at the time of diagnosis". Br J Rheumatol. 35 (11): 1161–8. PMID 8948307.
  15. Flanigan KM (August 2014). "Duchenne and Becker muscular dystrophies". Neurol Clin. 32 (3): 671–88, viii. doi:10.1016/j.ncl.2014.05.002. PMID 25037084.
  16. Flanigan KM (August 2014). "Duchenne and Becker muscular dystrophies". Neurol Clin. 32 (3): 671–88, viii. doi:10.1016/j.ncl.2014.05.002. PMID 25037084.
  17. Guglieri M, Straub V, Bushby K, Lochmüller H (October 2008). "Limb-girdle muscular dystrophies". Curr. Opin. Neurol. 21 (5): 576–84. doi:10.1097/WCO.0b013e32830efdc2. PMID 18769252.
  18. Udd B, Krahe R (October 2012). "The myotonic dystrophies: molecular, clinical, and therapeutic challenges". Lancet Neurol. 11 (10): 891–905. doi:10.1016/S1474-4422(12)70204-1. PMID 22995693.
  19. Kannourakis G (April 2002). "Glycogen storage disease". Semin. Hematol. 39 (2): 103–6. PMID 11957192.
  20. Schoenen J, Sianard-Gainko J, Carpentier M, Reznik M (August 1989). "Myositis during Borrelia burgdorferi infection (Lyme disease)". J. Neurol. Neurosurg. Psychiatry. 52 (8): 1002–5. PMC 1031843. PMID 2795056.
  21. Bove KE, Hilton PK, Partin J, Farrell MK (1983). "Morphology of acute myopathy associated with influenza B infection". Pediatr Pathol. 1 (1): 51–66. PMID 6687269.
  22. Howard RS (June 2005). "Poliomyelitis and the postpolio syndrome". BMJ. 330 (7503): 1314–8. doi:10.1136/bmj.330.7503.1314. PMC 558211. PMID 15933355.
  23. French P (January 2007). "Syphilis". BMJ. 334 (7585): 143–7. doi:10.1136/bmj.39085.518148.BE. PMC 1779891. PMID 17235095.
  24. Crum NF (September 2004). "Bacterial pyomyositis in the United States". Am. J. Med. 117 (6): 420–8. doi:10.1016/j.amjmed.2004.03.031. PMID 15380499.
  25. Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF, Pagani W, Lodin D, Orozco G, Chinea A (2015). "A comprehensive review of amyotrophic lateral sclerosis". Surg Neurol Int. 6: 171. doi:10.4103/2152-7806.169561. PMC 4653353. PMID 26629397.
  26. Baldwin K, Orr S, Briand M, Piazza C, Veydt A, McCoy S (May 2010). "Acute ischemic stroke update". Pharmacotherapy. 30 (5): 493–514. doi:10.1592/phco.30.5.493. PMID 20412000.
  27. van Doorn PA (June 2013). "Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS)". Presse Med. 42 (6 Pt 2): e193–201. doi:10.1016/j.lpm.2013.02.328. PMID 23628447.
  28. Goldenberg MM (March 2012). "Multiple sclerosis review". P T. 37 (3): 175–84. PMC 3351877. PMID 22605909.
  29. Cherington M (June 2004). "Botulism: update and review". Semin Neurol. 24 (2): 155–63. doi:10.1055/s-2004-830901. PMID 15257512.
  30. Titulaer MJ, Lang B, Verschuuren JJ (December 2011). "Lambert-Eaton myasthenic syndrome: from clinical characteristics to therapeutic strategies". Lancet Neurol. 10 (12): 1098–107. doi:10.1016/S1474-4422(11)70245-9. PMID 22094130.
  31. Jayam Trouth A, Dabi A, Solieman N, Kurukumbi M, Kalyanam J (2012). "Myasthenia gravis: a review". Autoimmune Dis. 2012: 874680. doi:10.1155/2012/874680. PMC 3501798. PMID 23193443.

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