Anemia, and Gait ataxia

Diseases related with Anemia and Gait ataxia

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

Top matches:

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Other less relevant matches:

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.

POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME Is also known as pcarp|autosomal recessive posterior column ataxia and retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Gait ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Anemia and Gait ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Generalized hypotonia Slurred speech Scoliosis Gait disturbance Myoclonus Abnormality of movement Muscle weakness Nystagmus Peripheral neuropathy Diabetes mellitus Global developmental delay Cerebellar atrophy Chorea Dystonia Unsteady gait Dementia Behavioral abnormality Cognitive impairment Intellectual disability, mild Delayed speech and language development Skeletal muscle atrophy Progressive cerebellar ataxia Limb ataxia Aggressive behavior Mental deterioration Difficulty walking Depressivity Neurodegeneration Involuntary movements Pancytopenia Cataract Hypothyroidism Hyperreflexia Falls Abnormal facial shape Thrombocytopenia Hearing impairment Generalized-onset seizure Spasticity Broad-based gait

Rare Symptoms - Less than 30% cases

Abnormality of the cerebral white matter Leukemia Neurological speech impairment Recurrent respiratory infections Babinski sign Flexion contracture Recurrent infections Kyphosis Muscle fibrillation Distal muscle weakness Distal amyotrophy Hyperkinesis Cerebral palsy Abnormality of extrapyramidal motor function Areflexia Memory impairment Retinal degeneration Recurrent urinary tract infections Growth delay Failure to thrive Neoplasm Neutropenia Impaired vibration sensation in the lower limbs Abnormality of eye movement Anxiety Abnormal cerebellum morphology Protruding ear Arthritis Camptodactyly Bradykinesia Hypertension Type II diabetes mellitus Smooth philtrum Increased sensitivity to ionizing radiation Myeloid leukemia Restlessness Ankle clonus Incoordination Short stature Clonus Schizophrenia Telangiectasia Narrow mouth Osteoporosis Decreased antibody level in blood Gliosis Rod-cone dystrophy Weight loss Confusion Rigidity Hypertonia Macrotia Hemiplegia Progressive microcephaly Choreoathetosis Intellectual disability, severe Hydrocephalus Hemolytic anemia Visual impairment Paresthesia Congenital cataract Dysmetria Irritability Action tremor Decreased nerve conduction velocity Intention tremor Nephropathy Proteinuria Renal insufficiency Dysphagia Hyperactive deep tendon reflexes Cryptorchidism Pigmentary retinopathy Congestive heart failure Urinary incontinence Cystathioninuria Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Non-Hodgkin lymphoma Hypomethioninemia Progressive spinal muscular atrophy Long face Immunoglobulin IgG2 deficiency Mucosal telangiectasiae Decreased/absent ankle reflexes Interosseus muscle atrophy IgE deficiency Vitamin B12 deficiency Defective B cell differentiation Decreased methionine synthase activity Cystathioninemia Psychosis Aplasia/Hypoplasia of the thymus Anteverted nares Microphthalmia Anorexia Malar flattening Chronic hepatitis Pulmonary arterial hypertension Myopathy Hypoplasia of the corpus callosum Female hypogonadism Low-set ears Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Ptosis Micrognathia Abnormality of retinal pigmentation Thyroglossal cyst Muscular hypotonia Decreased adenosylcobalamin Atherosclerosis Feeding difficulties in infancy Cerebral cortical atrophy Reduced visual acuity Thromboembolism Acidosis High forehead Megaloblastic anemia Joint hypermobility Retinopathy Hematuria Cor pulmonale Hip dislocation Homocystinuria Lethargy Methylmalonic aciduria Malabsorption Lower limb muscle weakness Disproportionate tall stature Myelopathy Abnormality of skin pigmentation Abnormality of macular pigmentation Hyperhomocystinemia Feeding difficulties Ectopia lentis Decreased methylcobalamin Urogenital fistula Aciduria Delirium Chronic hemolytic anemia Apathy Methylmalonic acidemia Metabolic acidosis Hemolytic-uremic syndrome Hepatic steatosis Respiratory insufficiency Right ventricular failure Gastritis Atrophy of the spinal cord Knee flexion contracture Midface retrusion Motor tics Visual loss Blindness Optic atrophy Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Basilar impression Sensory neuropathy Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Nyctalopia Muscle cramps Progressive gait ataxia Decreased number of large peripheral myelinated nerve fibers Abnormality of peripheral nerves Ring scotoma Flexion contracture of finger Truncal titubation Abnormality of the spinal cord Decreased sensory nerve conduction velocity Positive Romberg sign Titubation Sensory ataxia Chronic pain Gastrointestinal dysmotility Joint contracture of the hand Impaired proprioception Bone spicule pigmentation of the retina Acanthocytosis Achalasia Undetectable electroretinogram Scotoma Axonal degeneration Bowel incontinence Osteomyelitis Delayed gross motor development Broad face Thoracic kyphosis Pectus excavatum Broad forehead Cerebral calcification Hip dysplasia Otitis media Nevus Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Genu valgum Narrow chest Synophrys Prominent nasal bridge Sparse scalp hair Abnormal pyramidal sign Developmental regression Conductive hearing impairment Deeply set eye Osteopenia Autism Brachycephaly Hypogonadism Pes cavus Agenesis of corpus callosum Thick lower lip vermilion Abnormal form of the vertebral bodies Poor coordination Metatarsus adductus Irregular vertebral endplates Insulin-resistant diabetes mellitus Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Mixed hearing impairment Truncal obesity Anonychia Bilateral cryptorchidism Thickened skin Melanocytic nevus Self-injurious behavior Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Elevated alpha-fetoprotein Paraparesis Hypergonadotropic hypogonadism Gynecomastia Decreased proportion of CD4-positive T cells Elevated hepatic transaminase Abnormal spermatogenesis Abnormality of the nervous system Gait imbalance Acute leukemia Acute myeloid leukemia Aplasia/Hypoplasia of the cerebellum Myelodysplasia Leukopenia Bone marrow hypocellularity Postural instability Distal sensory impairment Splenomegaly Vertical nystagmus Aceruloplasminemia Decreased serum iron Elevated hepatic iron concentration Decreased serum ceruloplasmin Refractory anemia Scanning speech Cogwheel rigidity Blepharospasm Increased serum ferritin Abnormality of neutrophils Abnormal platelet function Torticollis Rheumatoid arthritis Chronic bronchitis Head tremor Upper limb undergrowth Cerebellar vermis atrophy Bronchitis Hypokinesia Akinesia Obsessive-compulsive behavior Personality changes Clumsiness Hypoplastic anemia Progressive neurologic deterioration Neuronal loss in central nervous system Brain atrophy Infertility Cough Hyperactivity Ventriculomegaly Abnormal macrophage morphology Acute myelomonocytic leukemia Polyuria Type I diabetes mellitus Testicular atrophy Mild proteinuria Frequent falls Specific learning disability Focal-onset seizure Migraine Dyskinesia Generalized tonic-clonic seizures Intellectual disability, moderate EEG abnormality Cerebral atrophy Abnormal glycosylation Horizontal nystagmus Normochromic anemia Demyelinating peripheral neuropathy Glomerulopathy Focal segmental glomerulosclerosis Postural tremor Glomerulosclerosis Hypoalbuminemia Nephrotic syndrome Stage 5 chronic kidney disease Lower limb spasticity Absence seizures Parkinsonism Paroxysmal dystonia Cirrhosis Poor speech Respiratory distress Fatigue Generalized tonic-clonic seizures without focal onset Hypoglycorrhachia Upper limb dysmetria Focal aware seizure Jerky head movements Paroxysmal dyskinesia Focal impaired awareness seizure Limb dysmetria Migraine without aura Abnormality of the head Torsion dystonia Episodic ataxia Hand tremor Reticulocytosis Atonic seizures Impulsivity Dilated fourth ventricle Paranoia Neoplasm of the breast Breast carcinoma Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Reduced tendon reflexes Abnormality of the immune system Oculomotor apraxia Recurrent pneumonia Truncal ataxia Abnormality of the hair Lymphopenia Abnormal vertebral morphology Sinusitis Cafe-au-lait spot Bronchiectasis Telangiectasia of the skin Prematurely aged appearance Hepatitis Abnormality of the testis Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder B-cell lymphoma IgA deficiency Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma Apraxia Lymphoma Mania Long philtrum Polyhydramnios Mandibular prognathia Cerebellar hypoplasia Inguinal hernia Clinodactyly Hypospadias Hernia Absent speech Syndactyly Intrauterine growth retardation Thin upper lip vermilion Myopia Wide nasal bridge Brachydactyly Epicanthus Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Gastroesophageal reflux Neonatal hypotonia Polyneuropathy Spondyloepiphyseal dysplasia Delayed puberty Abnormality of the liver Respiratory tract infection Carcinoma Pneumonia Immunodeficiency Strabismus Central hypothyroidism Mild microcephaly Cutaneous syndactyly Abnormal cardiac septum morphology Microretrognathia Dental crowding High myopia Decreased testicular size Febrile seizures Tapered finger Single transverse palmar crease Toe syndactyly Hypermetropia Dolichocephaly Abnormal sensory nerve conduction velocity


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