Dysarthria, and Constipation

Diseases related with Dysarthria and Constipation

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


Top matches:

Medium match PARKINSON DISEASE 20, EARLY-ONSET; PARK20


Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

Related symptoms:

  • Seizures
  • Dysarthria
  • Tremor
  • Dysphagia
  • Dystonia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 20, EARLY-ONSET; PARK20

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B


HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

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

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 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 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54


Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54 Is also known as spg54

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Strabismus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54

Medium 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

Top 5 symptoms//phenotypes associated to Dysarthria and Constipation

Symptoms // Phenotype % cases
Dysphagia Common - Between 50% and 80% cases
Parkinsonism Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases
Bradykinesia Common - Between 50% and 80% cases
Postural instability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Tremor Depressivity Ataxia Spasticity Gait ataxia Anxiety Babinski sign Dystonia Abnormal autonomic nervous system physiology Abnormal pyramidal sign Encephalopathy Progressive cerebellar ataxia Frequent falls Apathy Global developmental delay Generalized hypotonia Strabismus Stridor Resting tremor Hyperreflexia Postural tremor Fever Gait disturbance Seizures Nystagmus Hyperhidrosis Abnormality of movement Drooling

Rare Symptoms - Less than 30% cases


Central sleep apnea Limb dystonia Abnormal rapid eye movement sleep Camptocormia Orthostatic syncope Autonomic erectile dysfunction Cerebellar atrophy Limb ataxia Myoclonus Oculogyric crisis Excessive salivation Intellectual disability Female anorgasmia Hypertonia Hypokinesia Opisthotonus Hyperkinesis Feeding difficulties Progressive neurologic deterioration Motor delay Lethargy Irritability Muscular hypotonia of the trunk Fatigue Autonomic bladder dysfunction Ptosis Abnormal brain FDG positron emission tomography Orthostatic hypotension Weak voice Abnormality of the eye Cognitive impairment Dementia Generalized tonic-clonic seizures Hypotension Supranuclear gaze palsy Neuronal loss in central nervous system Hallucinations Mask-like facies Involuntary movements Mental deterioration Abnormality of eye movement Axial dystonia Orthostatic hypotension due to autonomic dysfunction Orofacial dyskinesia Raynaud phenomenon Gaze-evoked nystagmus Very long chain fatty acid accumulation Urinary incontinence Hypoplasia of the corpus callosum Short stature Corpus callosum atrophy Lower limb muscle weakness Paraplegia Spastic paraplegia Flexion contracture Telecanthus High palate Decreased liver function Cerebellar vermis atrophy Neonatal hypotonia Hearing impairment Failure to thrive Sensorineural hearing impairment Cataract Visual impairment Peripheral neuropathy Optic atrophy Abnormality of the cerebral white matter Spastic paraparesis Dysmetria Falls Retinal dystrophy Sensory neuropathy Lower limb spasticity Leukodystrophy Delirium Spastic gait Tip-toe gait Optic nerve hypoplasia Impaired smooth pursuit Bulbar signs Hypothermia Coma Urinary bladder sphincter dysfunction Hyperventilation Insomnia Aphasia Dysuria Gliosis Impotence Agitation Slurred speech Diplopia Memory impairment Neurodegeneration Central apnea Bowel incontinence Optic disc hypoplasia Progressive spasticity Abnormality of the periventricular white matter Syringomyelia Periventricular leukomalacia Hypersomnia Urinary retention Periventricular white matter hyperdensities Inability to walk Astrocytosis Contractures involving the joints of the feet Hypertension Weight loss Apnea Confusion Tachycardia Supranuclear ophthalmoplegia Talipes equinovarus Abnormality of the musculature Micrographia Hyperphenylalaninemia Infantile encephalopathy Limb hypertonia Episodic fever Impulsivity Obsessive-compulsive behavior Poor suck Torticollis Severe muscular hypotonia Intellectual disability, progressive Choreoathetosis Hyperactivity Behavioral abnormality Muscular hypotonia Short stepped shuffling gait Respiratory distress Stroke Cerebral cortical atrophy Dyskinesia Apraxia Shuffling gait Eyelid apraxia Staring gaze Sleep disturbance Substantia nigra gliosis Personality changes Alzheimer disease Urinary urgency Frontotemporal dementia Lewy bodies Kinetic tremor Delayed speech and language development Intellectual disability, mild Macule Hyperkeratosis Dysdiadochokinesis Urticaria Macular degeneration Fasciculations Hypohidrosis Intention tremor Abnormality of the skin Peripheral axonal neuropathy Dry skin Facial asymmetry Ophthalmoplegia Papule Neurological speech impairment Erythema Hyporeflexia Cerebral atrophy Generalized dystonia Pes cavus Abnormality of extrapyramidal motor function Brisk reflexes Lower limb hyperreflexia Central hypotonia Progressive encephalopathy Focal dystonia Neuromuscular dysphagia Night sweats Parkinsonism with favorable response to dopaminergic medication Decreased CSF homovanillic acid Broad-based gait Dysphonia Downbeat nystagmus Snoring



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Joint hypermobility, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more