Dysarthria, and Tachycardia

Diseases related with Dysarthria and Tachycardia

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

Top matches:

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5 Is also known as progressive external ophthalmoplegia, autosomal recessive 5

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5

Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

FATAL FAMILIAL INSOMNIA Is also known as insomnia, fatal familial

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FATAL FAMILIAL INSOMNIA

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Other less relevant matches:

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia|quaternary a syndrome|addisonian-achalasia syndrome|achalasia-addisonianism-alacrima syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|2a syndrome|3a syndrome|adrenal insufficiency-achalasia-alac

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRIPLE A SYNDROME

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15 Is also known as coxpd15

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Top 5 symptoms//phenotypes associated to Dysarthria and Tachycardia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Nystagmus Dystonia Depressivity Visual impairment Dysphagia Fatigue Optic atrophy Microcephaly Spasticity Dementia Neurodegeneration Global developmental delay Hearing impairment Sensory neuropathy Areflexia Gait ataxia Gait disturbance Elevated serum creatine phosphokinase Cerebellar atrophy Spastic tetraplegia Babinski sign Hypertrophic cardiomyopathy Rhabdomyolysis Abnormality of the cerebral white matter Motor axonal neuropathy Lower limb muscle weakness Slurred speech Chorea Atrial fibrillation Short stature Mental deterioration Confusion Anxiety Tremor Sensorineural hearing impairment Pes cavus Skeletal muscle atrophy Dysmetria Abnormality of visual evoked potentials Abnormal pyramidal sign Abnormality of the nervous system Dilated cardiomyopathy Hyperhidrosis

Rare Symptoms - Less than 30% cases

Strabismus Visual loss Paraparesis Spastic paraparesis Increased serum lactate Generalized-onset seizure Reduced visual acuity Diabetes mellitus Dyskinesia Parkinsonism Left ventricular hypertrophy Scoliosis Incoordination Abnormality of movement Elevated hepatic transaminase Oral-pharyngeal dysphagia Dysdiadochokinesis Involuntary movements Cardiac arrest Hypoglycemia Personality disorder Spinocerebellar tract degeneration Nephropathy Dilatation Abnormal cerebellum morphology Generalized hypotonia Intention tremor Intellectual disability Tics Ventricular arrhythmia Acanthocytosis Supraventricular tachycardia Unsteady gait Peripheral axonal neuropathy Hyperactive deep tendon reflexes Sensory axonal neuropathy Ventricular fibrillation Obsessive-compulsive behavior Tetraplegia Developmental regression Weight loss Neuronal loss in central nervous system Memory impairment Hallucinations Hepatosplenomegaly Encephalopathy Abnormal autonomic nervous system physiology Insomnia Urinary bladder sphincter dysfunction Ragged-red muscle fibers Myoclonus Anemia Hepatomegaly Myopathy Hypertonia Congestive heart failure Inability to walk Ptosis Behavioral abnormality Splenomegaly Cerebral atrophy Abetalipoproteinemia Diplopia Hypertriglyceridemia Temporal optic disc pallor Abnormality of retinal pigmentation Abnormality of eye movement Abnormality of the foot Limb muscle weakness Hypercholesterolemia Vertigo Peripheral demyelination Malabsorption Clumsiness Insulin resistance Spastic gait Limb ataxia Rod-cone dystrophy Lower limb spasticity Nyctalopia Palpitations Falls Neurological speech impairment Ventricular hypertrophy Optic disc pallor Steatorrhea Sensory impairment Chest pain Progressive cerebellar ataxia Hemiplegia/hemiparesis Fat malabsorption Pallor Palmoplantar hyperkeratosis Xanthelasma Primary adrenal insufficiency Generalized hyperpigmentation Orthostatic hypotension Ectopic kidney Adrenal insufficiency Spastic tetraparesis Decreased circulating cortisol level Hyperpigmentation of the skin Tetraparesis Hypotension Vitamin E deficiency Palmoplantar keratoderma Polyneuropathy Achalasia Anterior hypopituitarism Difficulty walking Respiratory distress Pes planus Kyphoscoliosis Cerebral cortical atrophy Hyperactivity Increased LDL cholesterol concentration Kyphosis Talipes equinovarus Decreased circulating aldosterone level Pain Adrenocorticotropin receptor defect Abnormality of the hypothenar eminence Abnormality of the calf musculature Anisocoria Plantar hyperkeratosis Alacrima Truncal ataxia Glucose intolerance Muscle stiffness Ichthyosis Abnormal saccadic eye movements Abnormality of the musculature Sinus tachycardia Hand muscle atrophy Reduced systolic function Decreased sensory nerve conduction velocity EMG abnormality Aspiration Cardiomegaly Concentric hypertrophic cardiomyopathy Cerebellar cortical atrophy Upper limb amyotrophy Incomprehensible speech Abnormality of the autonomic nervous system Hemifacial hypertrophy Positive Romberg sign Muscular dystrophy Pneumonia Decreased amplitude of sensory action potentials Muscular subvalvular aortic stenosis Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Cervical spinal cord atrophy Structural foot deformity Mitochondrial malic enzyme reduced Abolished vibration sense Spinal cord posterior columns myelin loss Decreased pyruvate carboxylase activity Abnormality of the dentate nucleus Palmar hyperhidrosis Abnormality of cardiovascular system physiology Lower limb amyotrophy Wolff-Parkinson-White syndrome Poor speech Reduced tendon reflexes Cachexia Impaired vibratory sensation Hammertoe Decreased motor nerve conduction velocity Visual field defect Increased CSF lactate Optic neuropathy Thoracic scoliosis Pituitary adenoma Abnormal EKG Heart block Ketosis Ketoacidosis Obesity Abnormal echocardiogram Increased reactive oxygen species production Myocardial fibrosis Ventricular septal defect Areflexia of lower limbs Hyposmia Delayed speech and language development Phonic tics Aspiration pneumonia Gait imbalance Impaired proprioception Asymmetric septal hypertrophy Subvalvular aortic stenosis T-wave inversion Poor fine motor coordination Diabetic ketoacidosis Microcornea Iris coloboma Impaired vibration sensation in the lower limbs Orofacial dyskinesia Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Restlessness Impaired pain sensation Bowel incontinence Hyporeflexia of lower limbs Emotional lability Personality changes Sleep apnea Sensorimotor neuropathy Hemolytic anemia Paresthesia Excessive salivation Increased muscle fatiguability Dyspnea Abnormal facial expression Lactic acidosis Acidosis Hypothyroidism Absent speech Abnormality of the astrocytes Hyporeflexia of upper limbs Blood group antigen abnormality Generalized limb muscle atrophy Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Rigidity Snoring Clonus Limb dysmetria Constipation Fever Hypertension Progressive ptosis Upper limb dysmetria Nasal regurgitation Left ventricular failure Generalized tonic-clonic seizures Progressive external ophthalmoplegia Neck muscle weakness External ophthalmoplegia Exercise intolerance Broad-based gait Ophthalmoplegia Apnea Coma Delirium Hypothermia Hypersomnia Urinary retention Astrocytosis Central apnea Dysuria Bulbar signs Hyperventilation Gliosis Aphasia Impotence Agitation Stridor Apathy Hyperkinesis Progressive neurologic deterioration Metabolic acidosis Ventricular tachycardia Hyperkeratosis Increased intraocular pressure Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Ectopia pupillae Hypoplasia of the iris Retinal hemorrhage Posterior embryotoxon Infantile spasms Scotoma Congenital glaucoma Blurred vision Cerebral hemorrhage Migraine with aura Neuritis Intracranial hemorrhage Retinal arterial tortuosity Respiratory insufficiency Hyperreflexia Feeding difficulties Muscular hypotonia Thalamic hemorrhage Posterior leukoencephalopathy Right hemiplegia Arterial tortuosity Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Hemiplegia Dysphonia Drooling Prolonged QTc interval Myopia Cataract Premature thelarche Elevated plasma acylcarnitine levels Premature pubarche Acute rhabdomyolysis Torsade de pointes Microphthalmia Ketonuria Poor coordination Myoglobinuria Spastic diplegia Myopathic facies Hyperammonemia Intellectual disability, mild Headache Leukoencephalopathy Retinal detachment Amblyopia Hemiparesis Migraine Muscle cramps Renal cyst Hypopigmentation of the skin Hematuria Glaucoma Astigmatism Congenital cataract Hypermetropia Corneal opacity Stroke Retinopathy Facial palsy Tendon xanthomatosis


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