Ataxia, and Constipation

Diseases related with Ataxia and Constipation

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


Top matches:

Medium match PARKINSON DISEASE, LATE-ONSET; PD


Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE, LATE-ONSET; PD

Medium match MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE


Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).

MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE Is also known as msa-p|msa, parkinsonian type

Related symptoms:

  • Dysarthria
  • Depressivity
  • Constipation
  • Gait ataxia
  • Rigidity


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

Medium 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

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Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47


Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Medium match MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE


Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).

MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE Is also known as sporadic olivopontocerebellar atrophy type 1|msa, cerebellar type|sporadic opca type 1|msa-c

Related symptoms:

  • Dysarthria
  • Depressivity
  • Constipation
  • Gait ataxia
  • Rigidity


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE

Medium match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Medium match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Medium match PEROXISOME BIOGENESIS DISORDER 8B; PBD8B


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 PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). 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 8B; PBD8B

Medium match RETT SYNDROME, CONGENITAL VARIANT


The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

Top 5 symptoms//phenotypes associated to Ataxia and Constipation

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal autonomic nervous system physiology Intellectual disability Rigidity Bradykinesia Abnormal pyramidal sign Progressive cerebellar ataxia Postural tremor Frequent falls Microcephaly Resting tremor Seizures Encephalopathy Delayed speech and language development Limb ataxia Feeding difficulties Depressivity Cognitive impairment Postural instability Failure to thrive Spasticity Dysphagia Dystonia

Rare Symptoms - Less than 30% cases


Drooling Hypohidrosis Irritability Growth delay Babinski sign Hypertonia Talipes equinovarus Motor delay Neonatal hypotonia Muscular hypotonia of the trunk Visual impairment Scoliosis Peripheral neuropathy Gait disturbance Strabismus Cerebellar atrophy Absent speech Autism EEG abnormality Developmental regression Nystagmus Postnatal microcephaly Broad-based gait Poor speech Chronic constipation Raynaud phenomenon Mask-like facies Gaze-evoked nystagmus Stridor Apathy Anxiety Orthostatic hypotension Axial dystonia Female anorgasmia Orofacial dyskinesia Abnormal brain FDG positron emission tomography Orthostatic hypotension due to autonomic dysfunction Tremor Autonomic erectile dysfunction Autonomic bladder dysfunction Hypotension Orthostatic syncope Abnormal rapid eye movement sleep Camptocormia Central sleep apnea Midface retrusion Bone marrow hypocellularity Fine hair Intrauterine growth retardation Sparse hair Alopecia Cerebellar hypoplasia Nail dystrophy Carious teeth Abnormality of skin pigmentation Intellectual disability, profound Pancytopenia Ptosis Delayed ability to walk Low-set ears Triangular face Thin upper lip vermilion Joint laxity Abnormal cardiac septum morphology Abnormality of the foot Smooth philtrum Unsteady gait Distal sensory impairment Wide nose Sensory impairment Dementia Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Syringomyelia Demyelinating peripheral neuropathy Short stature Stroke CNS hypomyelination Falls Oral leukoplakia Progressive microcephaly Postnatal growth retardation Genu valgum Dyskinesia Chorea Delayed myelination Apraxia Pachygyria Aspiration Gastroesophageal reflux Athetosis Cortical gyral simplification Poor eye contact Bruxism Breathing dysregulation Impaired social interactions Inappropriate laughter Pes planus Kyphosis Hearing impairment Sensory neuropathy Sensorineural hearing impairment Cataract Optic atrophy Abnormality of the cerebral white matter Dysmetria Abnormal heart morphology Retinal dystrophy Lower limb spasticity Intellectual disability, severe Decreased liver function Leukodystrophy Spastic paraparesis Cerebellar vermis atrophy Corpus callosum atrophy Very long chain fatty acid accumulation Hypoplasia of the corpus callosum Upslanted palpebral fissure Abnormality of the musculature Areflexia Short stepped shuffling gait Night sweats Parkinsonism with favorable response to dopaminergic medication Oculogyric crisis Decreased CSF homovanillic acid Ventriculomegaly Micrographia Substantia nigra gliosis Focal dystonia Weak voice Kinetic tremor Severe global developmental delay Lewy bodies Inability to walk Focal-onset seizure Epileptic encephalopathy Excessive salivation Generalized dystonia Hypsarrhythmia Hyperhidrosis Fever Respiratory distress Intellectual disability, mild Cerebral atrophy Pes cavus Myoclonus Lethargy Progressive encephalopathy Abnormality of extrapyramidal motor function Brisk reflexes Opisthotonus Hypokinesia Lower limb hyperreflexia Limb dystonia Central hypotonia Optic disc pallor Status epilepticus Long philtrum Urticaria Dry skin Peripheral axonal neuropathy Abnormality of the skin Intention tremor Fasciculations Macular degeneration Dysdiadochokinesis Facial asymmetry Macule Impaired smooth pursuit Supranuclear gaze palsy Supranuclear ophthalmoplegia High palate Sleep disturbance Downslanted palpebral fissures Abnormality of movement Ophthalmoplegia Frontotemporal dementia Neuromuscular dysphagia Urinary urgency Cerebral visual impairment Arnold-Chiari type I malformation Alzheimer disease Multifocal epileptiform discharges Dysphonia Downbeat nystagmus Personality changes Papule Hallucinations Neuronal loss in central nervous system Hyperreflexia Hyporeflexia Hyperkeratosis Erythema Neurological speech impairment Tongue thrusting



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