Dysarthria, and Abnormality of mitochondrial metabolism

Diseases related with Dysarthria and Abnormality of mitochondrial metabolism

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

Top matches:

Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset|optic atrophy type 2|opa2|non-leber type optic atrophy with early-onset|optic atrophy, x-linked

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EARLY-ONSET X-LINKED OPTIC ATROPHY

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3 Is also known as progressive external ophthalmoplegia, autosomal recessive 3

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

Other less relevant matches:

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.

EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME Is also known as autosomal recessive spastic ataxia type 5|afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spax5

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME

Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2

Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.

CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA Is also known as childhood-onset spasticity with variant non-ketotic hyperglycinemia|spasticity-ataxia-gait anomalies syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

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

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dysphagia Ptosis Cognitive impairment Seizures Generalized hypotonia Dystonia Nystagmus Skeletal muscle atrophy Spasticity Peripheral neuropathy Ragged-red muscle fibers Optic atrophy Tremor Gait disturbance Gait ataxia Paraparesis Spastic paraparesis Global developmental delay Intellectual disability, mild Dysmetria Abnormal pyramidal sign Dysdiadochokinesis Myopathy Facial palsy Proximal muscle weakness

Rare Symptoms - Less than 30% cases

Spastic dysarthria Cerebellar atrophy Visual impairment Neurodegeneration Spastic paraplegia Paraplegia Cerebral atrophy Abnormality of extrapyramidal motor function Muscular hypotonia of the trunk Apraxia Peripheral axonal neuropathy Myoclonus Strabismus Hypertonia Bradykinesia Irritability Horizontal nystagmus Spastic ataxia Hearing impairment Rigidity Mitochondrial myopathy Fatigue External ophthalmoplegia Hyporeflexia Increased serum lactate Cerebral cortical atrophy Abnormality of the nervous system Reduced visual acuity Ophthalmoplegia Elevated serum creatine phosphokinase Impaired social interactions Truncal ataxia Olivopontocerebellar atrophy Axonal degeneration Obsessive-compulsive behavior Exercise intolerance Type I diabetes mellitus Feeding difficulties Dysphonia Incoordination Intention tremor Hallucinations Fasciculations Anxiety Increased intramyocellular lipid droplets Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex IV Behavioral abnormality Depressivity Pes cavus Aggressive behavior Diplopia Brain atrophy Peripheral arterial stenosis Proximal amyotrophy Psychosis Developmental regression EMG: myopathic abnormalities Hypoplasia of the corpus callosum Progressive spasticity Unsteady gait Scoliosis Cerebral palsy Poor head control Vertebral fusion Lower limb amyotrophy Urinary incontinence Muscular hypotonia Motor delay Metabolic acidosis Apnea Retrognathia Diabetes mellitus Acidosis Difficulty walking Loss of ability to walk in early childhood Left ventricular hypertrophy Myalgia Limb muscle weakness Spinal cord lesion Nonketotic hyperglycinemia Sensory neuropathy Type II diabetes mellitus Decreased activity of the pyruvate dehydrogenase complex Hyperglycinemia Progressive muscle weakness Short attention span Lower limb spasticity Spastic diplegia Leukodystrophy Small for gestational age Mutism Demyelinating peripheral neuropathy Amyotrophic lateral sclerosis 3-Methylglutaconic aciduria Restlessness Choreoathetosis Aciduria Chorea Neutropenia Abnormality of movement Cardiomyopathy Short stature Frontal lobe dementia Pseudobulbar signs Frontotemporal dementia Bulbar palsy Akinesia Respiratory insufficiency Parkinsonism Dementia Areflexia Sensorineural hearing impairment Decreased activity of mitochondrial respiratory chain Progressive proximal muscle weakness Progressive external ophthalmoplegia Scapular winging Hyperactive patellar reflex Absent Achilles reflex Optic neuropathy Progressive visual loss Pallor Glaucoma Fever Encephalopathy Oculomotor apraxia Cogwheel rigidity Sensorimotor neuropathy Spastic gait Generalized myoclonic seizures Distal amyotrophy Lower limb muscle weakness Generalized tonic-clonic seizures Distal muscle weakness Mental deterioration EEG abnormality Cerebellar hypoplasia Pneumonia Focal motor seizures Craniofacial dystonia Acute encephalopathy Abnormality of the basal ganglia Respiratory failure Morphological abnormality of the pyramidal tract Loss of speech Atrophy/Degeneration affecting the brainstem Focal impaired awareness seizure Bilateral ptosis Progressive neurologic deterioration Tetraparesis Status epilepticus Generalized-onset seizure Focal-onset seizure Coma Inability to walk Confusion Paralysis Weakness of orbicularis oculi muscle


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