Motor delay, and Vertigo

Diseases related with Motor delay and Vertigo

In the following list you will find some of the most common rare diseases related to Motor delay and Vertigo that can help you solving undiagnosed cases.


Top matches:

High match DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A


DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A Is also known as dfnb84|deafness, autosomal recessive 84a, with vestibular dysfunction|deafness, autosomal recessive 84

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Motor delay
  • Vestibular dysfunction


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A

High match DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B


Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development
  • Motor delay
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B

Medium match PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME


Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).

PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME Is also known as scar19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|lichtenstein-knorr syndrome|spinocerebellar ataxia, autosomal recessive 19

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME

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Other less relevant matches:

Medium match EPISODIC ATAXIA, TYPE 6; EA6


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 6; EA6

Medium match EPISODIC ATAXIA TYPE 1


Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Medium match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Medium match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Medium match EPISODIC ATAXIA, TYPE 2; EA2


Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Medium match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Medium match CONGENITAL CONTRACTURAL ARACHNODACTYLY


Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

Top 5 symptoms//phenotypes associated to Motor delay and Vertigo

Symptoms // Phenotype % cases
Headache Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Motor delay and Vertigo. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Hearing impairment Cerebellar atrophy Tremor Global developmental delay Migraine Nausea Diplopia Hemiplegia Muscle weakness Generalized hypotonia Postural instability Intellectual disability Gait ataxia Nystagmus Scoliosis Sensorineural hearing impairment Vestibular dysfunction Vomiting

Rare Symptoms - Less than 30% cases


Microcephaly Myotonia Muscle stiffness Clumsiness Choreoathetosis Cognitive impairment Hypertension Fever Chorea Rigidity Encephalopathy Depressivity Dystonia Ventriculomegaly Memory impairment Paralysis Myopathy Mental deterioration Facial palsy Myalgia Dementia Nausea and vomiting Behavioral abnormality Muscle cramps Abnormal cerebellum morphology Kyphoscoliosis Hypoplasia of the corpus callosum Dysdiadochokinesis Progressive cerebellar ataxia Dysphagia Dysmetria Photophobia Hemiparesis Gait disturbance Gaze-evoked nystagmus Slurred speech Delayed speech and language development Episodic ataxia Hyperhidrosis Abnormality of cardiovascular system morphology Arrhythmia Dense calcifications in the cerebellar dentate nucleus Micrognathia Flexion contracture Brachycephaly High palate Prominent forehead Myopia Abnormal heart morphology Frontal bossing Clinodactyly Syndactyly Kyphosis Ventricular septal defect Talipes equinovarus Patent ductus arteriosus Short neck Calcification of the small brain vessels Atrial septal defect Dilatation Focal motor seizures Pill-rolling tremor Progressive encephalopathy Psychosis Progressive neurologic deterioration Broad-based gait Schizophrenia Oral-pharyngeal dysphagia Emotional lability Athetosis Mask-like facies Abnormality of neuronal migration Basal ganglia calcification Bipolar affective disorder Frontotemporal dementia Progressive choreoathetosis Lewy bodies Abnormal lower motor neuron morphology Calcinosis Focal dystonia Orofacial dyskinesia Pseudohypoparathyroidism Alcoholism Mood swings Subcutaneous hemorrhage Limb dysmetria Joint laxity Micrographia Osteopenia Pectus carinatum Camptodactyly Single umbilical artery Abnormality of the musculature Keratoconus Ulnar deviation of finger Hip contracture Aortic root aneurysm Distal arthrogryposis Esophageal atresia Scaphocephaly Megalocornea Patellar dislocation Abnormally large globe Disproportionate tall stature Duodenal atresia Slender build Interrupted aortic arch Hypoplasia of the musculature Spinal deformities Lens subluxation Iridodonesis Patellar subluxation Crumpled ear Abnormally folded helix Congenital kyphoscoliosis Slender finger Decreased muscle mass Abnormality of the pinna Interphalangeal joint contracture of finger Joint stiffness Abnormal cardiac septum morphology Camptodactyly of finger Bradykinesia Dolichocephaly Arthrogryposis multiplex congenita Talipes Arachnodactyly Chest pain Intestinal malrotation Mitral valve prolapse Mitral regurgitation Metatarsus adductus Bowing of the long bones Abnormal vertebral morphology Elbow flexion contracture Knee flexion contracture Bicuspid aortic valve Adducted thumb Ectopia lentis Aortic aneurysm Congenital contracture Clubbing Tracheoesophageal fistula Abnormality of extrapyramidal motor function Neurological speech impairment Cerebral calcification Stroke Anorexia Abnormal autonomic nervous system physiology Exercise intolerance Abnormality of mitochondrial metabolism Gastrointestinal dysmotility Visual impairment Limb ataxia Unsteady gait Developmental regression Delayed puberty Confusion Lethargy Nephropathy Areflexia Myocardial infarction Vasculitis Systemic lupus erythematosus Intracranial hemorrhage Personality changes Heart murmur Cutis marmorata Aphasia Visual field defect Action tremor Attention deficit hyperactivity disorder Thrombocytosis Tip-toe gait Hypertonia Specific learning disability Respiratory distress Hypometric saccades Phonophobia Calf muscle hypertrophy Blurred vision Poor coordination Myokymia Hand clenching Craniofacial disproportion Pallor Urinary urgency Growth delay Strabismus Truncal ataxia Muscular hypotonia Cerebellar hypoplasia Cardiomyopathy Diarrhea Loss of ability to walk Abdominal pain Autism Atrophic scars Transient ischemic attack Neuronal loss in central nervous system Downbeat nystagmus Tinnitus CNS hypomyelination Incoordination Focal impaired awareness seizure Ophthalmoparesis Loss of consciousness Cerebellar vermis atrophy Rhabdomyolysis Malignant hyperthermia Saccadic smooth pursuit Hepatomegaly Horizontal nystagmus Hyperreflexia Intrauterine growth retardation Thrombocytopenia Abnormality of the liver Abnormal pyramidal sign Corneal opacity Abnormality of movement Dyskinesia Parkinsonism Gliosis Urinary incontinence Sleep apnea Intention tremor Acrocyanosis Lupus anticoagulant Arteriovenous malformation Peripheral arterial stenosis Facial paralysis Cerebral ischemia Hemianopia Arterial stenosis Thromboembolic stroke Amaurosis fugax Vascular skin abnormality Antiphospholipid antibody positivity Skeletal muscle atrophy Epileptic encephalopathy Optic atrophy Peripheral neuropathy Short stature Moderate sensorineural hearing impairment EEG abnormality Hyporeflexia Proximal muscle weakness Apnea Paresthesia Generalized muscle weakness Focal-onset seizure Calf muscle hypoplasia



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

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