Ataxia, and Hyperhidrosis

Diseases related with Ataxia and Hyperhidrosis

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


Top matches:

Low match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Low match SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME


Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Low match BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE


Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA


Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Low match LYMPHOMA, HODGKIN, CLASSIC; CHL


Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Low match DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY


Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Low match FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA


Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Low 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

Low match FATAL FAMILIAL INSOMNIA


Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

FATAL FAMILIAL INSOMNIA Is also known as insomnia, fatal familial

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FATAL FAMILIAL INSOMNIA

Low match ALTERNATING HEMIPLEGIA OF CHILDHOOD


Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

Top 5 symptoms//phenotypes associated to Ataxia and Hyperhidrosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal autonomic nervous system physiology Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Hyperhidrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Cognitive impairment Generalized hypotonia Pain Intellectual disability Nystagmus Motor delay Hearing impairment Fever Mental deterioration Parkinsonism Muscular hypotonia of the trunk Tremor Abnormality of extrapyramidal motor function Stridor Oculogyric crisis Pes cavus Ptosis Abnormality of eye movement Dysphagia Peripheral neuropathy Hypertonia Cerebral atrophy Irritability Myoclonus Encephalopathy Growth delay Progressive neurologic deterioration Muscle weakness Migraine

Rare Symptoms - Less than 30% cases


Behavioral abnormality Hypomimic face Limb dystonia Hyperkinesis Spasticity Generalized tonic-clonic seizures Drooling Feeding difficulties Dyskinesia Muscular hypotonia Anxiety Depressivity Hypersomnia Muscle stiffness Gait disturbance Sleep disturbance Microcephaly Bradykinesia Involuntary movements Lethargy Postural tremor Gait ataxia Headache Constipation Babinski sign Generalized dystonia Respiratory distress Delayed speech and language development Excessive salivation Respiratory insufficiency Talipes equinovarus Weight loss Anorexia Cardiomyopathy Choreoathetosis Rigidity Agitation Hyperreflexia Sensory neuropathy Impulsivity Delirium Skeletal muscle atrophy Optic atrophy Apathy Hallucinations Neuronal loss in central nervous system Memory impairment Gliosis Neurodegeneration Decreased number of peripheral myelinated nerve fibers Dementia Slurred speech Hyporeflexia Sensorineural hearing impairment Temperature instability Shock Metabolic acidosis Wheezing Drowsiness Aciduria Abnormality of the skin Muscle fibrillation Hypophosphatemia Anhidrosis Severe lactic acidosis Oral-pharyngeal dysphagia Methylmalonic aciduria Hemiplegia Necrotizing encephalopathy Poor motor coordination Lactic acidosis Abnormality of the nervous system Unsteady gait Facial paralysis Transient hyperphenylalaninemia Failure to thrive Excessive daytime sleepiness Bronchospasm Episodic quadriplegia Abnormality of the mitochondrion Abnormality of the tongue Abnormality of the nose Severe global developmental delay Intellectual disability, severe Episodic metabolic acidosis Respiratory failure Limb hypertonia Acidosis Hypoglycemia Hyperphenylalaninemia Obesity Strabismus Renal aminoaciduria Cerebellar atrophy Urinary retention Nausea Exercise intolerance Astrocytosis Abnormality of mitochondrial metabolism Central apnea Dysuria Gastrointestinal dysmotility Bulbar signs Apnea Nausea and vomiting Hypothermia Urinary bladder sphincter dysfunction Hyperventilation Insomnia Aphasia Confusion Impotence Diplopia Coma Inability to walk Vertigo Attention deficit hyperactivity disorder Intermittent hyperpnea at rest Status epilepticus Tachycardia Bradycardia Myopathy Vomiting Diarrhea Exotropia Abdominal pain Autism Photophobia Hemiparesis Esotropia Snoring Chorea Tetraplegia Paralysis Developmental regression Abnormality of the eye Dyspnea Pallor Areflexia Recurrent infections Immunodeficiency Hypertension Leukemia Athetosis Motor axonal neuropathy Peripheral axonal neuropathy Distal amyotrophy Optic disc pallor Sensorimotor neuropathy Delayed gross motor development Sensory axonal neuropathy Multiple joint contractures Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Distal lower limb amyotrophy Spastic paraplegia Hyporeflexia of lower limbs Exaggerated startle response Hyperreflexia proximally Abnormality of the foot Postnatal microcephaly Spastic tetraparesis Poor head control Nasal speech Dysdiadochokinesis Paraplegia Difficulty walking Shuffling gait Neurofibrillary tangles Paresthesia Distal sensory impairment Sensory impairment Progressive hearing impairment Personality changes Osteomyelitis Global brain atrophy Severe hearing impairment Axonal loss Onion bulb formation Kyphosis Delusions Lewy bodies Visual hallucinations Diffuse cerebral atrophy Excessive daytime somnolence Sensory ataxia Cataplexy Narcolepsy Scoliosis Flexion contracture Abnormality of the vasculature Orofacial dyskinesia Cerebral palsy Hyperactivity Osteolysis Hodgkin lymphoma Hemoptysis Poor appetite Cellular immunodeficiency Lung adenocarcinoma Monoclonal immunoglobulin M proteinemia Impaired lymphocyte transformation with phytohemagglutinin Polyclonal elevation of IgM Aggressive behavior Bone pain Abnormal pyramidal sign Small for gestational age Abnormality of movement Poor speech Apraxia Clonus Truncal ataxia Horizontal nystagmus Oculomotor apraxia Bone marrow hypocellularity Lymphoma Stooped posture Progressive encephalopathy Inappropriate crying Abnormality of coordination Intellectual disability, mild Mask-like facies Brisk reflexes Opisthotonus Hypokinesia Lower limb hyperreflexia Central hypotonia Focal dystonia Chest pain Night sweats Parkinsonism with favorable response to dopaminergic medication Decreased CSF homovanillic acid Neoplasm Hepatomegaly Splenomegaly Skin rash Cough Pruritus Lymphadenopathy Episodic hemiplegia



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