Arthritis, and Unsteady gait

Diseases related with Arthritis and Unsteady gait

In the following list you will find some of the most common rare diseases related to Arthritis and Unsteady gait that can help you solving undiagnosed cases.


Top matches:

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE


Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match KURU, SUSCEPTIBILITY TO


Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

Related symptoms:

  • Ataxia
  • Mental deterioration
  • Abnormality of eye movement
  • Unsteady gait
  • Neurodegeneration


SOURCES: OMIM MENDELIAN

More info about KURU, SUSCEPTIBILITY TO

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Other less relevant matches:

Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6


Related symptoms:

  • Arthralgia
  • Difficulty walking
  • Osteoarthritis
  • Epiphyseal dysplasia
  • Irregular vertebral endplates


SOURCES: OMIM MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Low match HIP DYSPLASIA, BEUKES TYPE


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

HIP DYSPLASIA, BEUKES TYPE Is also known as cilliers-beighton syndrome|hip dysplasia, beukes type|osteoarthropathy, premature degenerative, of hip|bfhd|premature degenerative osteoarthropathy of the hip|beukes familial hip dysplasia

Related symptoms:

  • Scoliosis
  • Pain
  • Kyphosis
  • Severe short stature
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HIP DYSPLASIA, BEUKES TYPE

Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3


Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Fatigue
  • Myopathy


SOURCES: OMIM MESH MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3

Low match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5


Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 Is also known as multiple epiphyseal dysplasia, matn3-related|polyepiphyseal dysplasia type 5|microepiphyseal dysplasia, bilateral hereditary|edm5|bhmed|med5|bilateral hereditary micro-epiphyseal dysplasia

Related symptoms:

  • Short stature
  • Pain
  • Gait disturbance
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE


Spondyloepimetaphyseal dysplasia, Missouri type is characterized by 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.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE Is also known as semd, missouri type|spondyloepimetaphyseal dysplasia type 2|semd type 2

Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Skeletal dysplasia
  • Platyspondyly
  • Micromelia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Unsteady gait

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Arthralgia Uncommon - Between 30% and 50% cases
Waddling gait Uncommon - Between 30% and 50% cases
Small epiphyses Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Unsteady gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Difficulty walking Epiphyseal dysplasia Irregular epiphyses Arthralgia of the hip Coxa vara Short stature Lower limb muscle weakness Multiple epiphyseal dysplasia Metaphyseal irregularity Limb muscle weakness Muscle weakness

Rare Symptoms - Less than 30% cases


Kyphosis Limitation of joint mobility Visual impairment Dementia Joint stiffness Mental deterioration Genu valgum Kyphoscoliosis Fatigue Broad femoral neck Urinary incontinence Ataxia Abnormality of epiphysis morphology Hip dysplasia Falls Skeletal dysplasia Proximal muscle weakness Scoliosis Flat capital femoral epiphysis Genu varum Knee pain Hearing impairment Flared metaphysis Hip pain Platyspondyly Spondyloepiphyseal dysplasia Vertebral fusion Coxa valga Irregular vertebral endplates Shallow acetabular fossae Impaired temperature sensation Impaired distal proprioception Demyelinating motor neuropathy Demyelinating sensory neuropathy Impaired distal tactile sensation Abnormal brainstem MRI signal intensity Severe short stature Metaphyseal chondrodysplasia Abnormality of bone mineral density Abnormal bone ossification Impaired vibration sensation in the lower limbs Overgrowth Metaphyseal cupping Short lower limbs Arthropathy Avascular necrosis of the capital femoral epiphysis Impaired distal vibration sensation Urinary urgency Progressive spastic paraplegia Peripheral neuropathy Abnormality of the knee Irregular sclerotic endplates Flattened epiphysis Pear-shaped vertebrae Schmorl's node Irregular distal femoral epiphysis Flat distal femoral epiphysis Strabismus Spasticity Hyperreflexia Abnormality of the epiphysis of the femoral head Babinski sign Ulnar bowing Pes cavus Distal muscle weakness Spastic paraplegia Paraplegia Sensory neuropathy Lower limb spasticity Spastic gait Irregular capital femoral epiphysis Micromelia Delayed skeletal maturation Gait disturbance Rheumatoid arthritis Elevated erythrocyte sedimentation rate Pericarditis Uveitis Joint swelling Juvenile rheumatoid arthritis Elevated C-reactive protein level Anterior uveitis Serositis Femoral bowing Lymphadenopathy Abnormality of the skeletal system Bowing of the legs Rhizomelia Short femoral neck Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Premature osteoarthritis Flattened femoral head Delayed tarsal ossification Abnormality of the metaphysis Pleural effusion Skin rash Wide proximal femoral metaphysis Radial bowing Flared iliac wings Spondyloepimetaphyseal dysplasia Myopathy Elevated serum creatine phosphokinase Short metacarpal Easy fatigability Mild short stature Mildly elevated creatine phosphokinase Delayed epiphyseal ossification Metaphyseal dysplasia Autoimmunity Abnormality of the hip joint Hepatomegaly Fever Splenomegaly Visual loss Tibial bowing Abdominal pain Limited elbow extension Hepatosplenomegaly Myalgia Abnormal ossification involving the femoral head and neck Urogenital fistula Neurodegeneration Weight loss Hypertension Tremor Respiratory insufficiency Hydrocephalus Intellectual disability, severe Congestive heart failure Renal insufficiency Thrombocytopenia Depressivity Cerebral cortical atrophy Gait ataxia Anemia Reduced visual acuity Acidosis High forehead Macrotia Proteinuria Feeding difficulties in infancy Retinopathy Hip dislocation Lethargy Congenital cataract Malabsorption Feeding difficulties Low-set ears Confusion Stiff neck Flexion contracture Brachydactyly Myopia Short long bone Back pain Abnormal joint morphology Spinal canal stenosis Trismus Beaking of vertebral bodies Hypoplastic pelvis Hypoplastic ilia Thoracolumbar kyphosis Cataract Mild myopia Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly Growth delay Nystagmus Failure to thrive Abnormal facial shape Muscular hypotonia Smooth philtrum Paresthesia Abnormality of eye movement Abnormality of macular pigmentation Cor pulmonale Methylmalonic aciduria Homocystinuria Myelopathy Gastritis Right ventricular failure Hemolytic-uremic syndrome Atrophy of the spinal cord Methylmalonic acidemia Chronic hemolytic anemia Delirium Thromboembolism Decreased methylcobalamin Hyperhomocystinemia Decreased adenosylcobalamin Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Thyroglossal cyst Megaloblastic anemia Disproportionate tall stature Retinal degeneration Pigmentary retinopathy Abnormality of skin pigmentation Long face Joint hypermobility Hemolytic anemia Nephropathy Hematuria Hepatic steatosis Metabolic acidosis Neutropenia Aciduria Memory impairment Abnormality of extrapyramidal motor function Apathy Pancytopenia Psychosis Pulmonary arterial hypertension Broad-based gait Recurrent urinary tract infections Anorexia Abnormality of retinal pigmentation Atherosclerosis Slurred speech Hemiplegia Ectopia lentis Flared, irregular rib ends



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