Dysarthria, and Gait disturbance

Diseases related with Dysarthria and Gait disturbance

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

Top matches:

Related symptoms:

  • Ataxia
  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 45; SCA45

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

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

Other less relevant matches:

SPINOCEREBELLAR ATAXIA 46; SCA46 Is also known as spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 46; SCA46

Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by a slowly progressive and relatively pure ataxia.

SPINOCEREBELLAR ATAXIA TYPE 30 Is also known as sca30

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 30

SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011).Heterozygous mutation in the ITPR1 gene can also cause SCA29 (OMIM ), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment.Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by {3,4:Harding (1983, 1993)}, is a genetically heterogeneous disorder (see, e.g., {117210}).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 15; SCA15 Is also known as sca16, formerly|spinocerebellar ataxia 16, formerly

Related symptoms:

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 15; SCA15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.

Related symptoms:

  • Seizures
  • Ataxia
  • Dysarthria
  • Elevated serum creatine phosphokinase
  • Abnormality of movement


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY

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

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

Top 5 symptoms//phenotypes associated to Dysarthria and Gait disturbance

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Gait ataxia Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Limb ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Tremor Hyperreflexia Intellectual disability Seizures Motor delay

Rare Symptoms - Less than 30% cases

Scanning speech Intention tremor Abnormality of movement Unsteady gait Lower limb hyperreflexia Gaze-evoked nystagmus Slurred speech Abnormal cerebellum morphology Dysdiadochokinesis Peripheral neuropathy Dysmetria Abnormality of eye movement Truncal ataxia Cerebellar vermis atrophy Delayed speech and language development Autistic behavior Generalized myoclonic seizures Status epilepticus Absence seizures Atonic seizures Elevated serum creatine phosphokinase Pontocerebellar atrophy Vertical supranuclear gaze palsy Spastic paraparesis Paraparesis Congenital diaphragmatic hernia Spastic gait EMG abnormality Broad-based gait Abnormality of the basal ganglia Type 1 muscle fiber predominance Dysphagia Rigidity Parkinsonism Neurological speech impairment Bradykinesia Hyperkinesis Symmetric lesions of the basal ganglia Autism Degeneration of the striatum Hypokinesia Hyperactive deep tendon reflexes EEG abnormality Abnormal pyramidal sign Global developmental delay Sensory impairment Downbeat nystagmus Cerebral atrophy Cerebellar hypoplasia Inability to walk Corpus callosum atrophy Hyporeflexia Intellectual disability, moderate Abnormality of the eye Postural instability Delayed gross motor development Saccadic smooth pursuit Distal sensory impairment Sensory neuropathy Polyneuropathy Sensory axonal neuropathy Limb tremor Slow saccadic eye movements Sensory ataxia Positive Romberg sign Sensory ataxic neuropathy Square-wave jerks Hypermetric saccades Cognitive impairment Progressive cerebellar ataxia Postural tremor Impaired smooth pursuit Action tremor Head tremor Dysmetric saccades Gaze-evoked horizontal nystagmus Functional motor deficit


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