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Osteoarthritis

MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
Synonym: OSTEOARTHROSIS
SNOMED CT: Osteoarthritis (396275006); OA - Osteoarthritis (396275006); Degenerative arthritis (396275006); OA - Osteoarthrosis (396275006); Hypertrophic arthritis (396275006); Degenerative joint disease (396275006); Hypertrophic polyarthritis (396275006); Osteoarthrosis (396275006); Degenerative arthropathy (396275006); Degenerative polyarthritis (225655006)
 
HPO: HP:0002758
Monarch Initiative: MONDO:0005178

Definition

Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401). [from OMIM]

Conditions with this feature

Hereditary factor IX deficiency disease
MedGen UID:
945
Concept ID:
C0008533
Disease or Syndrome
Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In individuals with severe hemophilia B, spontaneous joint or deep-muscle bleeding is the most frequent sign. Individuals with severe hemophilia B are usually diagnosed during the first two years of life; without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month. Individuals with moderate hemophilia B seldom have spontaneous bleeding; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies from once a month to once a year. Individuals with mild hemophilia B do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding may vary from once a year to once every ten years. Individuals with mild hemophilia B are often not diagnosed until later in life. In any individual with hemophilia B, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Approximately 30% of heterozygous females have factor IX clotting activity lower than 40% and are at risk for bleeding (even if the affected family member has mild hemophilia B), although symptoms are usually mild. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity.
Hereditary factor VIII deficiency disease
MedGen UID:
5501
Concept ID:
C0019069
Disease or Syndrome
Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor VIII clotting activity. Individuals with severe hemophilia A are usually diagnosed during the first two years of life following oral or soft tissue bleeding either with procedures or due to a known family history of hemophilia. Without prophylactic treatment, individuals may average up to two to five spontaneous bleeding episodes each month including spontaneous joint bleeds or deep-muscle hematomas, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia A seldom have spontaneous bleeding, although it varies between individuals; however, they do have prolonged or delayed bleeding after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies, usually from once a month to once a year. Individuals with mild hemophilia A do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding episodes varies widely, typically from once a year to once every ten years. Individuals with mild hemophilia A are often not diagnosed until later in life. Approximately 30% of heterozygous females have factor VIII clotting activity below 40% and are at risk for bleeding (even if males in the family are only mildly affected). After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity. In addition, 25% of heterozygous females with normal factor VIII clotting activity report an increased bleeding tendency.
Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.
Congenital sensory neuropathy with selective loss of small myelinated fibers
MedGen UID:
6916
Concept ID:
C0020075
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.\n\nThe signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.
Ehlers-Danlos syndrome, classic type, 1
MedGen UID:
78660
Concept ID:
C0268335
Disease or Syndrome
Classic Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft and doughy to the touch, and hyperextensible, extending easily and snapping back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Mitral valve prolapse can occur infrequently, but tends to be of little clinical consequence. Aortic root dilatation has been reported, appears to be more common in young individuals, and rarely progresses.
Ehlers-Danlos syndrome, type 3
MedGen UID:
75670
Concept ID:
C0268337
Disease or Syndrome
Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising, functional bowel disorders, and cardiovascular autonomic dysfunction are common. Aortic root dilation, when present, is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common.
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.
Autosomal recessive spondyloepimetaphyseal dysplasia
MedGen UID:
98476
Concept ID:
C0432213
Disease or Syndrome
Syndrome with characteristics of disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three siblings from a Mexican mestizo family. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
Progressive pseudorheumatoid dysplasia
MedGen UID:
96581
Concept ID:
C0432215
Congenital Abnormality
Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress.
Trichorhinophalangeal dysplasia type I
MedGen UID:
140929
Concept ID:
C0432233
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.
Familial X-linked hypophosphatemic vitamin D refractory rickets
MedGen UID:
196551
Concept ID:
C0733682
Disease or Syndrome
The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. XLH frequently manifests in the first two years of life when lower-extremity bowing becomes evident with the onset of weight bearing; however, it sometimes is not manifest until adulthood, as previously unevaluated short stature. In adults, enthesopathy (calcification of the tendons, ligaments, and joint capsules) associated with joint pain and impaired mobility may be the initial presenting complaint. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported.
Chondrocalcinosis 2
MedGen UID:
163633
Concept ID:
C0856830
Disease or Syndrome
Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of Chondrocalcinosis Another form of chondrocalcinosis (CCAL1; 600668) has been mapped to chromosome 8q.
Cervical spondylosis
MedGen UID:
235174
Concept ID:
C1384641
Disease or Syndrome
Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.
Epiphyseal dysplasia, multiple, 3
MedGen UID:
322091
Concept ID:
C1832998
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Chondrocalcinosis 1
MedGen UID:
331527
Concept ID:
C1833499
Disease or Syndrome
Hip dysplasia, Beukes type
MedGen UID:
333593
Concept ID:
C1840572
Disease or Syndrome
Beukes hip dysplasia (HDB) is characterized by severe progressive degenerative osteoarthritis of the hip joint in early adulthood, with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Symptoms of hip joint discomfort usually develop in infancy or later childhood, but may present as late as the fourth decade. Phenotypic expression is age-related and variable in severity; penetrance is incomplete and has been estimated to be 80%. The earliest primary radiographic features of HDB include bilateral shortening and broadening of the femoral neck, delayed appearance of the secondary ossification center, coxa vara, displacement of the femoral head in the acetabulum, and overgrowth of the greater trochanters. After onset of symptoms, the characteristic signs of osteoarthritis develop, including bone sclerosis, cyst formation, and narrowing of the joint space, with rapid deterioration of the joint (summary by Watson et al., 2015).
Spondyloepiphyseal dysplasia tarda, autosomal recessive
MedGen UID:
338604
Concept ID:
C1849054
Disease or Syndrome
Autosomal recessive form of spondyloepiphyseal dysplasia tarda.
Hemochromatosis type 4
MedGen UID:
340044
Concept ID:
C1853733
Disease or Syndrome
Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005). For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200.
Spondyloepimetaphyseal dysplasia, Missouri type
MedGen UID:
355563
Concept ID:
C1865832
Disease or Syndrome
Disorder with manifestations of moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected siblings. Predisposition deformities to osteoarthritis have been noted. This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.
Stickler syndrome type 1
MedGen UID:
810955
Concept ID:
C2020284
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Osteoarthritis susceptibility 3
MedGen UID:
382650
Concept ID:
C2675609
Finding
Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.
Epiphyseal dysplasia, multiple, 6
MedGen UID:
436517
Concept ID:
C2675767
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Rienhoff syndrome
MedGen UID:
816342
Concept ID:
C3810012
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Osteoarthritis susceptibility 2
MedGen UID:
854385
Concept ID:
C3887526
Finding
Desbuquois dysplasia 1
MedGen UID:
860583
Concept ID:
C4012146
Disease or Syndrome
Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009). Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois Dysplasia DBQD2 (615777) is caused by mutation in the XYLT1 gene (608124) on chromosome 16p12. Two unrelated patients with immunodeficiency-23 (IMD23; 615816), due to mutation in the PGM3 gene (172100), were reported to have skeletal features reminiscent of DBQD.
Paget disease of bone 6
MedGen UID:
908743
Concept ID:
C4085250
Disease or Syndrome
Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Ehlers-Danlos syndrome, classic-like, 2
MedGen UID:
1632001
Concept ID:
C4693870
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). See 606408 for another classic-like EDS syndrome. For a discussion of the classification of EDS, see 130000.
Loeys-Dietz syndrome 6
MedGen UID:
1794251
Concept ID:
C5562041
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Congenital disorder of glycosylation, type Iw, autosomal dominant
MedGen UID:
1794278
Concept ID:
C5562068
Disease or Syndrome
Autosomal dominant congenital disorder of glycosylation type Iw (CDG1WAD) is characterized by variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features; about half of patients have impaired intellectual development. Additional features include increased muscle tone and muscle cramps (Wilson et al., 2021).
Neuronopathy, distal hereditary motor, autosomal dominant 10
MedGen UID:
1824007
Concept ID:
C5774234
Disease or Syndrome
Autosomal dominant distal hereditary motor neuronopathy-10 (HMND10) is a neurologic disorder of the peripheral nerves characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs. Affected individuals have onset of distal muscle weakness and atrophy in early childhood that results in walking difficulties and gait abnormalities. Some have pyramidal signs, including hyperreflexia, suggesting the involvement of upper motor neurons. Electrophysiologic studies are consistent with a neurogenic process. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects (1 family) (Capuano et al., 2016; Iacomino et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).

Professional guidelines

PubMed

Katz JN, Arant KR, Loeser RF
JAMA 2021 Feb 9;325(6):568-578. doi: 10.1001/jama.2020.22171. PMID: 33560326Free PMC Article
Abramoff B, Caldera FE
Med Clin North Am 2020 Mar;104(2):293-311. Epub 2019 Dec 18 doi: 10.1016/j.mcna.2019.10.007. PMID: 32035570
Filbay SR, Grindem H
Best Pract Res Clin Rheumatol 2019 Feb;33(1):33-47. Epub 2019 Feb 21 doi: 10.1016/j.berh.2019.01.018. PMID: 31431274Free PMC Article

Curated

UK NICE Guideline NG226, Osteoarthritis in over 16s: diagnosis and management, 2022

UK NICE Guideline NG193, Chronic pain (primary and secondary) in over 16s: assessment of all chronic pain and management of chronic primary pain, 2021

Recent clinical studies

Etiology

Sacitharan PK
Subcell Biochem 2019;91:123-159. doi: 10.1007/978-981-13-3681-2_6. PMID: 30888652
Mandl LA
Osteoarthritis Cartilage 2019 Mar;27(3):359-364. Epub 2018 Nov 16 doi: 10.1016/j.joca.2018.11.001. PMID: 30453055
Pereira D, Ramos E, Branco J
Acta Med Port 2015 Jan-Feb;28(1):99-106. Epub 2015 Feb 27 doi: 10.20344/amp.5477. PMID: 25817486
Taruc-Uy RL, Lynch SA
Prim Care 2013 Dec;40(4):821-36, vii. Epub 2013 Sep 26 doi: 10.1016/j.pop.2013.08.003. PMID: 24209720
Michael JW, Schlüter-Brust KU, Eysel P
Dtsch Arztebl Int 2010 Mar;107(9):152-62. Epub 2010 Mar 5 doi: 10.3238/arztebl.2010.0152. PMID: 20305774Free PMC Article

Diagnosis

Abramoff B, Caldera FE
Med Clin North Am 2020 Mar;104(2):293-311. Epub 2019 Dec 18 doi: 10.1016/j.mcna.2019.10.007. PMID: 32035570
Pereira D, Ramos E, Branco J
Acta Med Port 2015 Jan-Feb;28(1):99-106. Epub 2015 Feb 27 doi: 10.20344/amp.5477. PMID: 25817486
Glyn-Jones S, Palmer AJ, Agricola R, Price AJ, Vincent TL, Weinans H, Carr AJ
Lancet 2015 Jul 25;386(9991):376-87. Epub 2015 Mar 4 doi: 10.1016/S0140-6736(14)60802-3. PMID: 25748615
Taruc-Uy RL, Lynch SA
Prim Care 2013 Dec;40(4):821-36, vii. Epub 2013 Sep 26 doi: 10.1016/j.pop.2013.08.003. PMID: 24209720
Michael JW, Schlüter-Brust KU, Eysel P
Dtsch Arztebl Int 2010 Mar;107(9):152-62. Epub 2010 Mar 5 doi: 10.3238/arztebl.2010.0152. PMID: 20305774Free PMC Article

Therapy

Copp G, Robb KP, Viswanathan S
Cell Mol Immunol 2023 Jun;20(6):626-650. Epub 2023 Apr 25 doi: 10.1038/s41423-023-01020-1. PMID: 37095295Free PMC Article
Panknin TM, Howe CL, Hauer M, Bucchireddigari B, Rossi AM, Funk JL
Int J Mol Sci 2023 Feb 24;24(5) doi: 10.3390/ijms24054476. PMID: 36901908Free PMC Article
Qiu CG, Chui CS, Chow SKH, Cheung WH, Wong RMY
J Rehabil Med 2022 Mar 29;54:jrm00266. doi: 10.2340/jrm.v54.2032. PMID: 35174868Free PMC Article
Dias JM, Cisneros L, Dias R, Fritsch C, Gomes W, Pereira L, Santos ML, Ferreira PH
Braz J Phys Ther 2017 Nov-Dec;21(6):449-456. Epub 2017 Jul 5 doi: 10.1016/j.bjpt.2017.06.012. PMID: 28733093Free PMC Article
Brosseau L, Yonge KA, Robinson V, Marchand S, Judd M, Wells G, Tugwell P
Cochrane Database Syst Rev 2003;2003(4):CD004522. doi: 10.1002/14651858.CD004522. PMID: 14584019Free PMC Article

Prognosis

Quicke JG, Conaghan PG, Corp N, Peat G
Osteoarthritis Cartilage 2022 Feb;30(2):196-206. Epub 2021 Oct 22 doi: 10.1016/j.joca.2021.10.003. PMID: 34695571
Allen KD, Thoma LM, Golightly YM
Osteoarthritis Cartilage 2022 Feb;30(2):184-195. Epub 2021 Sep 14 doi: 10.1016/j.joca.2021.04.020. PMID: 34534661Free PMC Article
Wong CK, Mak RY, Kwok TS, Tsang JS, Leung MY, Funabashi M, Macedo LG, Dennett L, Wong AY
J Pain 2022 Apr;23(4):509-534. Epub 2021 Aug 24 doi: 10.1016/j.jpain.2021.07.012. PMID: 34450274
Johnson VL, Hunter DJ
Best Pract Res Clin Rheumatol 2014 Feb;28(1):5-15. doi: 10.1016/j.berh.2014.01.004. PMID: 24792942
Zhang Y, Jordan JM
Clin Geriatr Med 2010 Aug;26(3):355-69. doi: 10.1016/j.cger.2010.03.001. PMID: 20699159Free PMC Article

Clinical prediction guides

Bhagat M, Neelapala YVR, Gangavelli R
Physiother Res Int 2020 Jan;25(1):e1812. Epub 2019 Sep 10 doi: 10.1002/pri.1812. PMID: 31502354
Zhai G, Randell EW, Rahman P
Rheumatology (Oxford) 2018 Dec 1;57(12):2087-2095. doi: 10.1093/rheumatology/kex497. PMID: 29373736Free PMC Article
Iagnocco A
Clin Exp Rheumatol 2014 Jan-Feb;32(1 Suppl 80):S48-52. Epub 2014 Feb 17 PMID: 24528550
Gerwin N, Bendele AM, Glasson S, Carlson CS
Osteoarthritis Cartilage 2010 Oct;18 Suppl 3:S24-34. doi: 10.1016/j.joca.2010.05.030. PMID: 20864021
Peterfy CG, Guermazi A, Zaim S, Tirman PF, Miaux Y, White D, Kothari M, Lu Y, Fye K, Zhao S, Genant HK
Osteoarthritis Cartilage 2004 Mar;12(3):177-90. doi: 10.1016/j.joca.2003.11.003. PMID: 14972335

Recent systematic reviews

Brophy RH, Fillingham YA
J Am Acad Orthop Surg 2022 May 1;30(9):e721-e729. doi: 10.5435/JAAOS-D-21-01233. PMID: 35383651
Tsokanos A, Livieratou E, Billis E, Tsekoura M, Tatsios P, Tsepis E, Fousekis K
Medicina (Kaunas) 2021 Jul 7;57(7) doi: 10.3390/medicina57070696. PMID: 34356977Free PMC Article
Raposo F, Ramos M, Lúcia Cruz A
Musculoskeletal Care 2021 Dec;19(4):399-435. Epub 2021 Mar 5 doi: 10.1002/msc.1538. PMID: 33666347
van Doormaal MCM, Meerhoff GA, Vliet Vlieland TPM, Peter WF
Musculoskeletal Care 2020 Dec;18(4):575-595. Epub 2020 Jul 9 doi: 10.1002/msc.1492. PMID: 32643252
Ferreira RM, Torres RT, Duarte JA, Gonçalves RS
Acta Reumatol Port 2019 Jul 29;44(3):173-217. PMID: 31356585

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG226, Osteoarthritis in over 16s: diagnosis and management, 2022
    • NICE, 2021
      UK NICE Guideline NG193, Chronic pain (primary and secondary) in over 16s: assessment of all chronic pain and management of chronic primary pain, 2021

    Consumer resources

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