Dysarthria, and Abnormality of metabolism/homeostasis

Diseases related with Dysarthria and Abnormality of metabolism/homeostasis

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


Top matches:

Low match BIFID UVULA


Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

BIFID UVULA Is also known as bifidity of the uvula|uvula, cleft|uvular cleft

Related symptoms:

  • Cleft lip
  • Bifid uvula
  • Submucous cleft soft palate
  • Nasal, dysarthic speech


SOURCES: OMIM ORPHANET MENDELIAN

More info about BIFID UVULA

Low match SPINOCEREBELLAR ATAXIA 11; SCA11


Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 11; SCA11

Low match EPISODIC ATAXIA TYPE 5


Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.

Related symptoms:

  • Ataxia
  • Dysarthria
  • Vertigo
  • Postural instability
  • Truncal ataxia


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 5

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Other less relevant matches:

Low match PRIMARY DYSTONIA, DYT6 TYPE


Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.

PRIMARY DYSTONIA, DYT6 TYPE Is also known as generalized cervical and upper-limb-onset dystonia|dyt6|idiopathic torsion dystonia of mixed type|torsion dystonia, adult-onset, mixed type

Related symptoms:

  • Delayed speech and language development
  • Dysarthria
  • Dystonia
  • Myoclonus
  • Abnormality of movement


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PRIMARY DYSTONIA, DYT6 TYPE

Low match SPINOCEREBELLAR ATAXIA 45; SCA45


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 45; SCA45

Low match PRIMARY DYSTONIA, DYT17 TYPE


Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.

Related symptoms:

  • Dysarthria
  • Dystonia
  • Cerebral cortical atrophy
  • Parkinsonism
  • Torticollis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY DYSTONIA, DYT17 TYPE

Low match DYSTONIA 26, MYOCLONIC; DYT26


Myoclonic dystonia-26 is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015).

Related symptoms:

  • Dysarthria
  • Tremor
  • Dystonia
  • Depressivity
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 26, MYOCLONIC; DYT26

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4


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

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY


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

Low match SPINOCEREBELLAR ATAXIA 46; SCA46


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

Top 5 symptoms//phenotypes associated to Dysarthria and Abnormality of metabolism/homeostasis

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Generalized dystonia Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Dysarthria and Abnormality of metabolism/homeostasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Limb ataxia Dysphonia Torticollis Gait ataxia

Rare Symptoms - Less than 30% cases


Delayed speech and language development Laryngeal dystonia Postural instability Truncal ataxia Abnormality of eye movement Craniofacial dystonia Abnormality of the eye Myoclonus Abnormality of movement Hyperreflexia Intellectual disability Torsion dystonia Blepharospasm Peripheral neuropathy Hyporeflexia Saccadic smooth pursuit Delayed gross motor development Unsteady gait Intellectual disability, moderate Motor delay Cleft lip Dysmetria Distal sensory impairment Sensory neuropathy Polyneuropathy Abnormal cerebellum morphology Corpus callosum atrophy Sensory impairment Sensory axonal neuropathy Slow saccadic eye movements Sensory ataxia Positive Romberg sign Sensory ataxic neuropathy Seizures Cerebellar vermis atrophy Inability to walk Writer's cramp Submucous cleft soft palate Nasal, dysarthic speech Progressive cerebellar ataxia Vertigo Gaze-evoked nystagmus Limb dystonia Focal dystonia Oromandibular dystonia Abnormality of the head Lingual dystonia Cerebellar hypoplasia Bifid uvula Downbeat nystagmus Cerebral cortical atrophy Parkinsonism Tremor Depressivity Anxiety Head tremor Cerebral atrophy Square-wave jerks



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