Arthritis, and Abnormality of movement

Diseases related with Arthritis and Abnormality of movement

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


Top matches:

Low match LESCH-NYHAN SYNDROME


Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

Related symptoms:

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

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

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Other less relevant matches:

Low match LEGG-CALVÉ-PERTHES DISEASE


Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

LEGG-CALVÉ-PERTHES DISEASE Is also known as legg-perthes disease|osteochondrosis of the capital femoral epiphysis|perthes disease|aseptic necrosis of the capital femoral epiphysis|lcp|osteochondritis of the capital femoral epiphysis

Related symptoms:

  • Short stature
  • Pain
  • Skeletal muscle atrophy
  • Abnormality of the dentition
  • Depressivity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGG-CALVÉ-PERTHES DISEASE

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 PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Low match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

Top 5 symptoms//phenotypes associated to Arthritis and Abnormality of movement

Symptoms // Phenotype % cases
Arthralgia Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Epiphyseal dysplasia Uncommon - Between 30% and 50% cases
Multiple epiphyseal dysplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Abnormality of movement. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Arthralgia of the hip Irregular epiphyses Small epiphyses Short stature

Rare Symptoms - Less than 30% cases


Distal muscle weakness Limb muscle weakness Lower limb muscle weakness Tremor Sensorineural hearing impairment Hearing impairment Knee pain Spasticity Proximal muscle weakness Avascular necrosis of the capital femoral epiphysis Falls Hip dysplasia Coxa vara Broad femoral neck Muscle weakness Fatigue Myopathy Waddling gait Mildly elevated creatine phosphokinase Gout Renal insufficiency Difficulty walking Flat capital femoral epiphysis Peripheral neuropathy Lymphadenopathy Anterior uveitis Elevated C-reactive protein level Juvenile rheumatoid arthritis Joint swelling Uveitis Nephronophthisis Arachnoid cyst Pericarditis Elevated erythrocyte sedimentation rate Abnormality of the hip joint Tubular atrophy Rheumatoid arthritis Pleural effusion Kinetic tremor Renal corticomedullary cysts Skin rash Serositis Autoimmunity Myalgia Hepatosplenomegaly Abdominal pain Visual loss Splenomegaly Pancreatic cysts Visual impairment Chronic pancreatitis Fever Hepatomegaly Seizures Abnormality of the skeletal system Gait disturbance Retinal degeneration Hypertension Cardiomyopathy Vocal cord paresis Abnormality of the kidney Progressive peripheral neuropathy Dilated cardiomyopathy Hoarse voice Distal amyotrophy Abnormality of the foot Hyporeflexia Areflexia Dysphagia Stage 5 chronic kidney disease Delayed tarsal ossification Intellectual disability Renal cyst Premature osteoarthritis Hip pain Delayed ossification of carpal bones Pancreatitis Hypoplasia of the capital femoral epiphysis Short femoral neck Metaphyseal irregularity Genu varum Coxa valga Limitation of joint mobility Genu valgum Joint stiffness Flattened femoral head Abnormality of bone mineral density Delayed epiphyseal ossification Pes cavus Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Urinary urgency Spastic gait Lower limb spasticity Urinary incontinence Sensory neuropathy Paraplegia Spastic paraplegia Dementia Babinski sign Impaired distal tactile sensation Hyperreflexia Strabismus Flat distal femoral epiphysis Irregular distal femoral epiphysis Schmorl's node Abnormality of the knee Irregular vertebral endplates Hyperuricemia Hemiplegia/hemiparesis Hematuria Intellectual disability, moderate Intellectual disability, mild Behavioral abnormality Demyelinating sensory neuropathy Abnormal brainstem MRI signal intensity Mild short stature Overgrowth Easy fatigability Short metacarpal Elevated serum creatine phosphokinase Wide proximal femoral metaphysis Abnormal ossification involving the femoral head and neck Abnormality of the epiphysis of the femoral head Irregular capital femoral epiphysis Anemia Abnormal bone ossification Shallow acetabular fossae Arthropathy Vertebral fusion Spondyloepiphyseal dysplasia Abnormality of epiphysis morphology Skeletal dysplasia Skeletal muscle atrophy Kyphoscoliosis Severe short stature Kyphosis Scoliosis Cartilage destruction Synovitis Lower limb asymmetry Aseptic necrosis Hyperkinesis Joint dislocation Congenital hip dislocation Delayed skeletal maturation Depressivity Abnormality of the dentition Tubular basement membrane disintegration



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