Arthritis, and Cerebellar atrophy

Diseases related with Arthritis and Cerebellar atrophy

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


Top matches:

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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Other less relevant matches:

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Low match LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Low match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Low match SPINOCEREBELLAR ATAXIA TYPE 5


Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.

SPINOCEREBELLAR ATAXIA TYPE 5 Is also known as sca5

Related symptoms:

  • Gait disturbance
  • Cerebellar atrophy
  • Slurred speech
  • Incoordination


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 5

Top 5 symptoms//phenotypes associated to Arthritis and Cerebellar atrophy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Cerebellar atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Depressivity Scoliosis Mental deterioration Anxiety Global developmental delay Rheumatoid arthritis Muscular hypotonia Recurrent infections Gait disturbance Cognitive impairment Motor delay Hyperreflexia Behavioral abnormality Sensorineural hearing impairment Hypertonia Short neck Inguinal hernia Prominent forehead Talipes equinovarus Growth delay Epicanthus Strabismus Dysmetria Areflexia Babinski sign Short stature Immunodeficiency Obsessive-compulsive behavior Nystagmus Hypertension Aggressive behavior Tremor Gait ataxia Hyperactivity Delayed speech and language development Abnormality of movement

Rare Symptoms - Less than 30% cases


Progressive cerebellar ataxia Dysphagia Nasal speech Dysarthria Knee flexion contracture Pain Underdeveloped nasal alae Dental malocclusion Optic atrophy Blepharophimosis Abnormality of the dentition Kyphoscoliosis Mandibular prognathia Intellectual disability, mild Malar flattening Gliosis Myopathy Rigidity Hypoplasia of the brainstem Diabetes mellitus Myoclonus Gout Visual impairment Peripheral neuropathy Visual loss Hallucinations Pneumonia Psychosis Peripheral demyelination Progressive visual loss Ventriculomegaly Arnold-Chiari type I malformation Delusions Cataract Increased urinary hypoxanthine Umbilical hernia Hypothyroidism Hernia Absent speech Dystonia Dementia Intellectual disability, severe Pes cavus Hydrocephalus Fever Spasticity Irritability High palate Incoordination Hypermetropia Paranoia Neurological speech impairment Bronchitis Limb dystonia Slurred speech Progressive neurologic deterioration Abnormal cerebellum morphology Type II diabetes mellitus Involuntary movements Confusion Bradykinesia Abnormality of eye movement Chorea Delayed skeletal maturation Anemia Cryptorchidism Muscle weakness Neurodegeneration Microcephaly Schizophrenia Abnormality of the cerebral white matter Hypertelorism Parkinsonism Chronic otitis media Hyperlordosis Sleep disturbance Paraplegia Difficulty walking Heart murmur Spastic paraplegia Abnormal pyramidal sign Horizontal nystagmus Torticollis Prominent supraorbital ridges Abnormality of extrapyramidal motor function Brisk reflexes Increased intracranial pressure Impaired vibration sensation in the lower limbs Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Focal dystonia Low anterior hairline Generalized dystonia Narrow palate Hyperactive deep tendon reflexes Cerebral palsy Recurrent bacterial infections Resting tremor Lower limb hyperreflexia Gaze-evoked nystagmus Widely spaced teeth Spastic diplegia Postural tremor Dysphonia Flat occiput Flattened moderately deformed vertebrae Bowing of the legs Abnormal echocardiogram Thickened calvaria Axial dystonia Abnormality of the gingiva Aseptic necrosis Severe sensorineural hearing impairment Patellar dislocation Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Impaired smooth pursuit Long ear Dysostosis multiplex Synovitis Abnormal cornea morphology Abnormality of the rib cage Hydrocele testis Reduced ejection fraction Abnormality of the helix Craniofacial hyperostosis Spondylolisthesis Abnormality of the sternum Femoral bowing Open bite Abnormality of joint mobility Encephalopathy Fatigue Bowel incontinence Spinocerebellar tract disease in lower limbs Neurodevelopmental delay Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of the ilium Retinal thinning Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Writer's cramp Low frustration tolerance Infantile encephalopathy Conjunctivitis Hypoplastic toenails Absent eyebrow Keratitis Congenital sensorineural hearing impairment Scaling skin Urticaria Reduced tendon reflexes Neoplasm of the skin Osteolysis Sparse eyelashes Elbow flexion contracture Squamous cell carcinoma Skin ulcer Sparse and thin eyebrow Hypohidrosis Thickened skin Aganglionic megacolon Fine hair Nail dysplasia Delayed eruption of teeth Palmoplantar keratoderma Ichthyosis Hemiplegia/hemiparesis Aplasia/Hypoplasia of the eyebrow Nail dystrophy Corneal neovascularization Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Corneal scarring Keratoconjunctivitis Squamous cell carcinoma of the skin Abnormality of the tongue Recurrent corneal erosions Dystrophic fingernails Macule Oral leukoplakia Hypoplastic fingernail Furrowed tongue Dystrophic toenail Corneal erosion Abnormal eyelash morphology Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Carious teeth Severe global developmental delay Obsessive-compulsive trait Tetraplegia Spinal cord posterior columns myelin loss Parietal cortical atrophy Muscle mounding Pancreatic fibrosis Limb ataxia Decreased nerve conduction velocity Recurrent upper respiratory tract infections Drooling Sensorimotor neuropathy Progressive muscle weakness Neonatal hypotonia Renal insufficiency Cerebral cortical atrophy Elevated serum creatine phosphokinase Hyporeflexia Respiratory insufficiency Paresis of extensor muscles of the big toe Decreased CSF homovanillic acid Abnormality of the substantia nigra Fixed facial expression Transient hyperphenylalaninemia Progressive flexion contractures Cardiomyopathy Arrhythmia Scarring Uric acid nephrolithiasis Sparse hair Erythema Carcinoma Photophobia Hyperkeratosis Hyperhidrosis Cerebellar hypoplasia Alopecia Blindness Neoplasm Abnormality of skeletal muscles Abnormality of the nervous system Excessive purine production Hyperuricosuria Abnormal aortic morphology High-frequency hearing impairment Hyperuricemia Hypotelorism Convex nasal ridge Triangular face Polyneuropathy Peripheral axonal neuropathy Wide mouth Spastic gait Midface retrusion Gingival overgrowth Overbite Ventricular septal defect Cleft palate Abnormal facial shape Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Dimple chin Atrial septal defect Breech presentation Trismus Malignant hyperthermia Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Congenital contracture Pterygium Hypoplasia of the corpus callosum Abnormality of cardiovascular system morphology Spina bifida occulta Anal atresia Low posterior hairline Tetralogy of Fallot Amenorrhea Specific learning disability Renal agenesis Vesicoureteral reflux Bifid uvula Hemolytic anemia Bulbous nose Pulmonic stenosis Thrombocytopenia Congenital cataract Autoimmunity Abnormality of the pinna Conductive hearing impairment Retrognathia Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Hypospadias Obesity Adducted thumb Joint contracture of the hand Open mouth Restlessness Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Cerebellar vermis atrophy Oral motor hypotonia Muscle fibrillation Hypokinesia Akinesia Personality changes Hyperkinesis Clumsiness Broad-based gait Generalized-onset seizure Neuronal loss in central nervous system Brain atrophy Frequent temper tantrums Falls Intellectual disability, profound Deeply set eye Abnormality of the skin Flat face Talipes Arthrogryposis multiplex congenita Hip dislocation Small for gestational age Postnatal growth retardation Camptodactyly Telecanthus Narrow mouth Infertility Glaucoma Long philtrum Short nose Weight loss Wide nasal bridge Flexion contracture Ptosis Cough Micrognathia Failure to thrive Primary amenorrhea Renal dysplasia Amblyopia Hepatomegaly Recurrent respiratory infections Cerebral atrophy Kyphosis Splenomegaly Abnormality of the skeletal system Frontal bossing Macrocephaly Skeletal muscle atrophy Myopia Depressed nasal bridge Osteopenia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Macrotia Skeletal dysplasia Conotruncal defect Delayed myelination Tall stature Bowing of the long bones Hypertrichosis Depressed nasal ridge Pancytopenia Optic disc pallor Hip dysplasia Otitis media Decreased antibody level in blood Macroglossia Coarse facial features Highly arched eyebrow Thick eyebrow Retinal degeneration Genu valgum Abnormality of the foot Corneal opacity Broad forehead Pectus carinatum Respiratory tract infection Hepatosplenomegaly Psychotic episodes Velopharyngeal insufficiency Spina bifida Apathy Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Anal stenosis Dysdiadochokinesis Cholelithiasis Abnormality of the hand Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Autoimmune thrombocytopenia Posterior embryotoxon Giant platelets Seborrheic dermatitis Retinal vascular tortuosity Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Bipolar affective disorder Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Abnormality of corneal stroma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Aggressive behavior, related diseases and genetic alterations

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