Dysarthria, and Dysphagia

Diseases related with Dysarthria and Dysphagia

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

Top matches:

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral|bpp|cbps|pmgx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about BILATERAL PERISYLVIAN POLYMICROGYRIA

Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.

AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION Is also known as adsd

Related symptoms:

  • Dysarthria
  • Tremor
  • Gait disturbance
  • Dysphagia
  • Rigidity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18

Other less relevant matches:

A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-PSYCHOMOTOR DELAY SYNDROME Is also known as autosomal recessive spinocerebellar ataxia type 11|scar11

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-PSYCHOMOTOR DELAY SYNDROME

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Dysphagia
  • Respiratory failure
  • Fasciculations


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12

Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.

SPINOCEREBELLAR ATAXIA TYPE 11 Is also known as sca11

Related symptoms:

  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia
  • Dystonia
  • Difficulty walking


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 11

SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in mid-adulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as anxiety and deficits in executive function. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis (summary by Genis et al., 2018).

Related symptoms:

  • Ataxia
  • Dysarthria
  • Dysphagia
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 48; SCA48

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24

Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.

PRIMARY DYSTONIA, DYT2 TYPE Is also known as dyt2|dystonia musculorum deformans 2

Related symptoms:

  • Feeding difficulties
  • Delayed speech and language development
  • Dysarthria
  • Tremor
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY DYSTONIA, DYT2 TYPE

Top 5 symptoms//phenotypes associated to Dysarthria and Dysphagia

Symptoms // Phenotype % cases
Amyotrophic lateral sclerosis Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Involuntary movements Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Tremor Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Cerebellar atrophy Ataxia Fasciculations Spasticity Muscle weakness Difficulty walking Intellectual disability Paralysis Delayed speech and language development Cognitive impairment Global developmental delay Dysmetria Oromandibular dystonia Dementia Agoraphobia Urinary incontinence Torticollis Pallor Anxiety Gait ataxia Jerky ocular pursuit movements Vertical nystagmus Gait imbalance Horizontal nystagmus Progressive cerebellar ataxia Mental deterioration Torsion dystonia Myoclonus Respiratory insufficiency Feeding difficulties Mutism Limb dystonia Abnormal lower motor neuron morphology Bulbar signs Tetraparesis Absent speech Hyperreflexia Generalized dystonia Astrocytosis Blepharospasm Axonal loss Athetosis Drooling Neuronal loss in central nervous system Gliosis Frontotemporal dementia Cerebellar vermis atrophy Abnormal pyramidal sign Facial tics Slurred speech Hyperkinesis Bradykinesia Parkinsonism Abnormality of movement Rigidity Pseudobulbar signs Lower limb hyperreflexia Atypical absence seizures Perisylvian polymicrogyria Pseudobulbar paralysis Dyslexia Polymicrogyria Generalized tonic-clonic seizures Intellectual disability, mild Dysdiadochokinesis Hypokinesia Peripheral neuropathy Truncal ataxia Tongue fasciculations Respiratory failure Abnormality of ocular smooth pursuit Gaze-evoked horizontal nystagmus Impaired smooth pursuit Seizures Limb ataxia Hyperactive deep tendon reflexes Unsteady gait Severe global developmental delay Nystagmus Skeletal muscle atrophy Symmetric lesions of the basal ganglia Degeneration of the striatum Abnormality of the basal ganglia Facial grimacing


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