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.
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:
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROMESpastic 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:
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROMEBrain 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:
SOURCES: OMIM ORPHANET MENDELIAN
More info about BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASEAutosomal 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:
SOURCES: ORPHANET OMIM MENDELIAN
More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIAClassic 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:
SOURCES: OMIM ORPHANET MENDELIAN
More info about LYMPHOMA, HODGKIN, CLASSIC; CHLDopa-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:
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCYFatal 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:
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA
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:
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about FATAL FAMILIAL INSOMNIAAlternating 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:
SOURCES: ORPHANET OMIM MENDELIAN
More info about ALTERNATING HEMIPLEGIA OF CHILDHOODSymptoms // 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 |
Patients with Ataxia and Hyperhidrosis. may also develop some of the following symptoms:
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