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Abnormality of the musculature

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonym: Muscular abnormality
HPO: HP:0003011


Abnormality originating in one or more muscles, i.e., of the set of muscles of body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the musculature

Conditions with this feature

Distichiasis-lymphedema syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.
Episodic ataxia type 1
MedGen UID:
Concept ID:
Disease or Syndrome
Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other possible associations include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence.
Familial partial lipodystrophy, Kobberling type
MedGen UID:
Concept ID:
Disease or Syndrome
Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986). For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.
Satoyoshi syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families (Ehlayel and Lacassie, 1995).
Thrombocytopenia 1
MedGen UID:
Concept ID:
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
Peroneus tertius muscle, absence of
MedGen UID:
Concept ID:
Congenital Abnormality
Cramps, familial adolescent
MedGen UID:
Concept ID:
Polyneuropathy-hand defect syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.
Cerebral cavernous malformation
MedGen UID:
Concept ID:
Congenital Abnormality
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.

Professional guidelines


Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556
Warden SJ, Davis IS, Fredericson M
J Orthop Sports Phys Ther 2014 Oct;44(10):749-65. Epub 2014 Aug 7 doi: 10.2519/jospt.2014.5334. PMID: 25103133
Kezirian EJ, Boudewyns A, Eisele DW, Schwartz AR, Smith PL, Van de Heyning PH, De Backer WA
Sleep Med Rev 2010 Oct;14(5):299-305. Epub 2010 Jan 29 doi: 10.1016/j.smrv.2009.10.009. PMID: 20116305

Recent clinical studies


Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006291. PMID: 37591693Free PMC Article
Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004184. PMID: 31127036Free PMC Article


Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006291. PMID: 37591693Free PMC Article
Furtado LV, Kacar M, Mostafavi R, Shi Z, Ruiz R, Koo SC, Santiago T, Segers B, Krasin MJ, Abramson ZR, Shulkin B, Talbot LJ, Pappo A, Gartrell J
Cold Spring Harb Mol Case Stud 2023 Apr;9(2) Epub 2023 May 9 doi: 10.1101/mcs.a006277. PMID: 36997313Free PMC Article

Clinical prediction guides

Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006291. PMID: 37591693Free PMC Article

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