Arthritis, and Progressive cerebellar ataxia

Diseases related with Arthritis and Progressive cerebellar ataxia

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


Top matches:

Medium 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

Medium 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 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

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Other less relevant matches:

Low match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Low match LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME


This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

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 ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Low match PEROXISOME BIOGENESIS DISORDER 5B; PBD5B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Top 5 symptoms//phenotypes associated to Arthritis and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Seizures Depressivity Hearing impairment Dysarthria Rheumatoid arthritis Anxiety Pes cavus Babinski sign Cognitive impairment Generalized hypotonia Cerebellar atrophy Gait disturbance Global developmental delay Limb dystonia Broad-based gait Bradykinesia Horizontal nystagmus Progressive neurologic deterioration Slurred speech Fever Abnormal cerebellum morphology Obsessive-compulsive behavior Spasticity Motor delay Fatigue Talipes equinovarus Brisk reflexes Scoliosis Behavioral abnormality Anemia Delayed speech and language development Hypertension Dysmetria Abnormality of the cerebral white matter Rigidity Dystonia Mental deterioration

Rare Symptoms - Less than 30% cases


Myopia Optic disc pallor Epicanthus Unsteady gait Muscular hypotonia Cataract Truncal ataxia Muscle weakness Sensorineural hearing impairment Hyporeflexia Peripheral demyelination Skeletal muscle atrophy Impaired vibration sensation in the lower limbs Pancytopenia Decreased CSF homovanillic acid Lower limb hyperreflexia Areflexia Limb ataxia Postural tremor Focal dystonia Torticollis Progressive flexion contractures Abnormality of extrapyramidal motor function Gaze-evoked nystagmus Parkinsonism Sleep disturbance Intellectual disability, mild Transient hyperphenylalaninemia Hypothyroidism Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Generalized dystonia Psychosis Confusion Growth delay Bronchitis Ventriculomegaly Juvenile rheumatoid arthritis Irritability Abnormality of eye movement Abnormality of movement Falls Neurodegeneration Gliosis Generalized-onset seizure Type II diabetes mellitus Involuntary movements Incoordination Clumsiness Slow saccadic eye movements Homocystinuria Peripheral axonal neuropathy Retinal pigment epithelial atrophy Acidosis Poikilocytosis Hypermethioninemia Halitosis Macular edema Anisocytosis Retinal atrophy Nyctalopia Abnormality of skin pigmentation Flexion contracture Failure to thrive Low-set ears High palate Feeding difficulties Thrombocytopenia Abnormal heart morphology Pallor Poor speech CNS demyelination Abnormality of the liver Photoreceptor layer loss on macular OCT Leukoencephalopathy Episodic ataxia Hepatitis Sensory ataxia Abnormality of the eye Abnormality of the nervous system Headache Ring scotoma Gout Decreased serum iron Anorexia Peripheral neuropathy Aortic regurgitation Dysdiadochokinesis Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Hypertyrosinemia Spastic paraplegia Thin upper lip vermilion Diplopia Saccadic smooth pursuit Progressive gait ataxia Ankle clonus Macular degeneration EMG abnormality Fasciculations Intention tremor Leg muscle stiffness Retinal detachment Intellectual disability, moderate Ptosis Fixed facial expression Obsessive-compulsive trait Infantile encephalopathy Dysmetric saccades Hypermetric saccades Writer's cramp Polyneuropathy Very long chain fatty acid accumulation Bronchiolitis Difficulty running Oculomotor apraxia Decreased liver function Apraxia Retinal dystrophy Downbeat nystagmus Joint laxity Neonatal hypotonia Rod-cone dystrophy Pneumonia Visual impairment Tortuosity of conjunctival vessels Abnormal enzyme/coenzyme activity Axial dystonia Oromandibular dystonia Feeding difficulties in infancy Macrocytic anemia Hyperhomocystinemia Glossitis Methylmalonic acidemia Methylmalonic aciduria Stomatitis Megaloblastic anemia Abnormality of the skin Megaloblastic bone marrow Aciduria Neutropenia Lethargy Small for gestational age Microtia Skin rash Developmental regression Decreased methylcobalamin Decreased adenosylcobalamin Parkinsonism with favorable response to dopaminergic medication Cerebral palsy Torsion dystonia Upper motor neuron dysfunction Hyperactive deep tendon reflexes Resting tremor Spastic diplegia Dysphonia Paraplegia Decreased methionine synthase activity Abnormal pyramidal sign Hyperlordosis Difficulty walking Encephalopathy Hypertonia Cystathioninemia Cystathioninuria Edema Delusions Spinocerebellar tract disease in lower limbs Myopathy Cerebral atrophy Immunodeficiency Malar flattening Kyphosis Splenomegaly Abnormality of the dentition Intellectual disability, severe Midface retrusion Hydrocephalus Short neck Abnormality of the skeletal system Frontal bossing Optic atrophy Macrocephaly Recurrent infections Hernia Depressed nasal bridge Skeletal dysplasia Broad forehead Pectus carinatum Respiratory tract infection Hepatosplenomegaly Umbilical hernia Coarse facial features Osteopenia Inguinal hernia Kyphoscoliosis Macrotia Mandibular prognathia Prominent forehead Recurrent respiratory infections Delayed skeletal maturation Hepatomegaly Pain Neurological speech impairment Cough Hyperkinesis Schizophrenia Neuronal loss in central nervous system Brain atrophy Chorea Infertility Aggressive behavior Akinesia Weight loss Hyperactivity Diabetes mellitus Myoclonus Dementia Dysphagia Personality changes Hypokinesia Strabismus Mania Hypertelorism Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Paranoia Muscle fibrillation Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Cerebellar vermis atrophy Corneal opacity Hypermetropia Flattened moderately deformed vertebrae Abnormality of the rib cage Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Craniofacial hyperostosis Long ear Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Abnormality of the gingiva Retinal thinning Severe sensorineural hearing impairment Hypoplastic inferior ilia Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Decreased pulmonary function Cerebral dysmyelination Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Patellar dislocation Aseptic necrosis Abnormality of the foot Decreased antibody level in blood Tall stature Bowing of the long bones Hypertrichosis Depressed nasal ridge Hip dysplasia Otitis media Dental malocclusion Gingival overgrowth Delayed myelination Macroglossia Highly arched eyebrow Thick eyebrow Retinal degeneration Genu valgum Amblyopia Hallucinations Thickened calvaria Flat occiput Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Heart murmur Spastic gait Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Elevated levels of phytanic acid



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

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