Dysarthria, and Unsteady gait

Diseases related with Dysarthria and Unsteady gait

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

Top matches:

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is an extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 15|scar15|salih ataxia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

SPINOCEREBELLAR ATAXIA TYPE 40 Is also known as sca40

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 40

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

Other less relevant matches:

AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA 3; AOA3

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22

Related symptoms:

  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 6 Is also known as sca6

Related symptoms:

  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Dysphagia
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 6

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26

Top 5 symptoms//phenotypes associated to Dysarthria and Unsteady gait

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Nystagmus Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Dysmetria Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intention tremor Limb ataxia Dysphagia Hyperreflexia Gait ataxia Babinski sign Hyporeflexia Distal sensory impairment Falls Areflexia Truncal ataxia

Rare Symptoms - Less than 30% cases

Oculomotor apraxia Gait disturbance Apraxia Muscle weakness Abnormal cerebellum morphology Positive Romberg sign Gaze-evoked horizontal nystagmus Frequent falls Sensory impairment Postural instability Motor delay Saccadic smooth pursuit Tremor Dysdiadochokinesis Delayed speech and language development Peripheral demyelination Distal sensory loss of all modalities Sensory ataxia Scanning speech Neuronal loss in central nervous system Distal sensory impairment of all modalities Congestive heart failure Spastic gait Cataract Growth delay Lower limb spasticity Gliosis Dystonia Gait instability, worse in the dark Hypoplasia of the corpus callosum Progressive cerebellar ataxia Diplopia Abnormality of vision Incoordination Blepharospasm Vertical nystagmus Choking episodes Bradyopsia Peripheral neuropathy Distal muscle weakness Peripheral axonal neuropathy Sensorimotor neuropathy Abnormal pyramidal sign Nonprogressive cerebellar ataxia Spasticity Polyneuropathy Pontocerebellar atrophy Functional motor deficit Global developmental delay Spastic paraparesis Severe global developmental delay Involuntary movements Paraparesis Cerebellar vermis atrophy Impaired smooth pursuit Broad-based gait Abnormality of ocular smooth pursuit Neurological speech impairment Delayed gross motor development Seizures Generalized neonatal hypotonia Abnormality of eye movement Abnormality of the eye Slow saccadic eye movements Generalized hypotonia Strabismus Intellectual disability, moderate Cerebellar hypoplasia Neonatal hypotonia Cerebellar vermis hypoplasia Clumsiness Action tremor Spastic dysarthria Vertical supranuclear gaze palsy Hypermetric saccades


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