Dysarthria, and Pulmonary arterial hypertension

Diseases related with Dysarthria and Pulmonary arterial hypertension

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

Top matches:

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Other less relevant matches:

Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertension
  • Cerebellar atrophy
  • Hypertonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOYL TRANSFERASE 1 DEFICIENCY

Medium match TAKAYASU ARTERITIS

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Medium match MERRF

MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MERRF

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.

SPASTIC PARAPLEGIA TYPE 2 Is also known as spg2|spastic paraparesis type 2|spastic gait type 2|x-linked spastic paraplegia type 2|sppx2

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA TYPE 2

Top 5 symptoms//phenotypes associated to Dysarthria and Pulmonary arterial hypertension

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Neurological speech impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Pulmonary arterial hypertension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertension Anemia Failure to thrive Intellectual disability Muscle weakness Fatigue Short stature Mental deterioration Hypertrophic cardiomyopathy Increased serum lactate Hepatomegaly Generalized myoclonic seizures Lactic acidosis Acidosis Proteinuria Optic atrophy Skeletal muscle atrophy Dyspnea Dementia Osteolysis Hypertonia Abnormality of the liver Encephalopathy Delayed skeletal maturation Ophthalmoplegia Arrhythmia Delayed puberty Recurrent respiratory infections Generalized tonic-clonic seizures Increased CSF lactate Weight loss Depressivity Developmental regression Migraine Coma Mitochondrial myopathy Splenomegaly Status epilepticus Hemiparesis Progressive neurologic deterioration Anorexia Exercise intolerance Multiple lipomas Mutism Kyphosis Tremor Myopathy Myoclonus Cerebral ischemia Generalized hypotonia EEG abnormality Growth delay Cerebral cortical atrophy Strabismus Sensorineural hearing impairment Cardiomyopathy Muscular hypotonia Osteoporosis Ptosis Hemiplegia Feeding difficulties Respiratory distress Respiratory insufficiency Cognitive impairment Hyperreflexia Ventriculomegaly Hyperkinesis Motor delay

Rare Symptoms - Less than 30% cases

Decreased body weight Ragged-red muscle fibers External ophthalmoplegia EMG abnormality Myalgia Left ventricular hypertrophy Elevated serum creatine phosphokinase Jaundice Cerebellar hypoplasia Generalized-onset seizure Abnormality of the cardiovascular system Cerebral atrophy Cerebral calcification Abdominal pain Dysmetria Abnormal cerebellum morphology Hypogonadism Retinopathy Abnormality of mitochondrial metabolism Vertebral compression fractures Bone pain Increased bone mineral density Increased susceptibility to fractures Increased antibody level in blood Interstitial pulmonary abnormality Pericardial effusion Pathologic fracture Aseptic necrosis Multiple myeloma Pancytopenia Abnormal myocardium morphology Hypersplenism Erlenmeyer flask deformity of the femurs Hypoplasia of the corpus callosum Behavioral abnormality Sensory neuropathy Lipoma Corneal opacity Spastic paraparesis Epistaxis Hematuria Ophthalmoparesis Stroke-like episode Aphasia Dysphasia Hyperthyroidism Pulmonary embolism Progressive external ophthalmoplegia Cardiorespiratory arrest Wolff-Parkinson-White syndrome Reduced consciousness/confusion Spontaneous hematomas Bruising susceptibility Amaurosis fugax Abnormality of the cerebral white matter Abnormality of extrapyramidal motor function Arthritis Subcutaneous nodule Edema Thrombocytopenia Hepatosplenomegaly Abnormality of the eye Dystonia Gait imbalance Congestive heart failure Vertigo Transient ischemic attack Cytochrome C oxidase-negative muscle fibers Renal Fanconi syndrome Visual field defect Metabolic acidosis Tetraplegia Syncope Chest pain Abnormal bleeding Paresthesia Hepatic failure Pruritus Hyperammonemia Weak cry Headache Exertional dyspnea Pigmentary retinopathy Decreased liver function Hypercalciuria Hyperhidrosis Hepatic steatosis Renal tubular dysfunction Fever Scoliosis Dilatation Vomiting Muscular hypotonia of the trunk Pain Diarrhea Nystagmus Dysphagia Peripheral neuropathy Hearing impairment Microcephaly Cerebellar atrophy Gait disturbance Apnea Hydrocephalus Microphthalmia Alopecia Atrial septal defect Agenesis of corpus callosum Cryptorchidism Ventricular septal defect Macrocephaly Delayed speech and language development Rigidity Neoplasm Basal ganglia necrosis Global systolic dysfunction Lacticaciduria Weakness of facial musculature Abnormality of thalamus morphology Kyphoscoliosis Skeletal dysplasia Chronic myelogenous leukemia Hydronephrosis Aortic valve stenosis Nevus flammeus Hypoplasia of the iris Aplasia cutis congenita Hamartoma Absent septum pellucidum Cortical dysplasia Lipodystrophy Hemangioma Sacral dimple Muscle stiffness Abnormality of the face Paralysis Intellectual disability, profound Coarctation of aorta Dandy-Walker malformation Nevus Iris coloboma Hypotrichosis Papule EEG with photoparoxysmal response Coloboma Scarring EEG with irregular generalized spike and wave complexes Increased serum pyruvate Fatty replacement of skeletal muscle Aspiration pneumonia Mitral valve calcification Aortic valve calcification Vertical supranuclear gaze palsy Abnormal lung morphology Spontaneous abortion Venous thrombosis Chronic fatigue Myelodysplasia Hyperpigmentation of the skin Hydrops fetalis Abnormality of movement Pulmonary infiltrates Macular atrophy Acute myeloid leukemia Thrombocytosis Aspiration Peripheral arterial stenosis Oral-pharyngeal dysphagia Stridor Arterial thrombosis Abnormal facial shape Hepatitis Diffuse cerebellar atrophy Abnormality of the endocrine system Sinus tachycardia Abnormality of brainstem morphology Decreased activity of mitochondrial respiratory chain Shock Respiratory failure Abnormal echocardiogram Portal fibrosis Right ventricular cardiomyopathy Supraventricular tachycardia Diffuse cerebral atrophy Palpitations Intrahepatic cholestasis Motor axonal neuropathy Ventricular extrasystoles Muscle fibrillation Mildly elevated creatine phosphokinase Right bundle branch block Sensory axonal neuropathy EMG: myopathic abnormalities Delayed gross motor development Ventricular tachycardia Abnormal eyelash morphology Ectopia pupillae Arachnoid cyst Generalized osteosclerosis Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Fractures of the long bones Esodeviation Periorbital edema Abnormality of the spleen Hematological neoplasm Avascular necrosis of the capital femoral epiphysis Supranuclear gaze palsy Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Hepatocellular carcinoma Gingival bleeding Protuberant abdomen Petechiae Abnormality of coagulation Osteomyelitis Menorrhagia Decreased beta-glucocerebrosidase protein and activity Cardiac valve calcification Clubbing Diplopia Hyperlysinuria Progressive spastic paraparesis Degeneration of the lateral corticospinal tracts Spinocerebellar tract degeneration Congenital nystagmus Progressive spasticity Bowel incontinence Toe walking Incoordination Paraparesis Leukodystrophy Spastic gait Horizontal supranuclear gaze palsy Lower limb spasticity Frequent falls Clumsiness Limitation of joint mobility Falls Lower limb muscle weakness Paraplegia Spastic paraplegia Respiratory tract infection Pes cavus Babinski sign Flexion contracture Leukocytosis Abnormality of the thorax Abnormality of the skull Peripheral pulmonary artery stenosis Epibulbar dermoid Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Abnormal aortic morphology Visceral angiomatosis Glioma Interrupted aortic arch Porencephalic cyst Bone cyst Subvalvular aortic stenosis Subcutaneous lipoma Craniofacial hyperostosis Astrocytoma Xanthomatosis Hemihypertrophy Echolalia Irritability Dysostosis multiplex Eyelid coloboma Abnormal eyelid morphology Skin tags Sclerocornea Capillary hemangioma Tricuspid valve prolapse Hemiatrophy Portal hypertension Cirrhosis Cholelithiasis Reduced bone mineral density Leukopenia Oculomotor apraxia Meningitis Hepatic fibrosis Osteoarthritis Apraxia Cyanosis Parkinsonism Abdominal distention Ascites Abnormality of skin pigmentation Chorioretinitis Lymphadenopathy Abnormality of eye movement Osteopenia Myopia Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Pneumonia Abnormal aortic valve morphology Hip dislocation Involuntary movements Generalized hirsutism Myotonia Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Polyuria Glycosuria Hypertrichosis Type I diabetes mellitus Atrial fibrillation Ventricular hypertrophy Psychosis Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Renal tubular acidosis Progressive encephalopathy Amenorrhea Specific learning disability Hip dysplasia Hypogonadotrophic hypogonadism Purpura Thoracolumbar scoliosis Cachexia Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Poor head control Hyponatremia Poor suck Aortic aneurysm Bilateral ptosis Decreased nerve conduction velocity Atrioventricular block Macular degeneration Chronic kidney disease Growth abnormality Easy fatigability Goiter Schizophrenia Polydipsia Hypopigmented skin patches Ischemic stroke Apathy Reduced tendon reflexes Spinal muscular atrophy Pancreatitis Memory impairment Sensory impairment Focal segmental glomerulosclerosis Gait ataxia Abnormality of the pinna Feeding difficulties in infancy Anxiety Proximal renal tubular acidosis Increased intramyocellular lipid droplets Photophobia Spastic hemiparesis Gastroesophageal reflux Increased hepatocellular lipid droplets Hypothyroidism Autism Hypertelorism Erythema Diabetes mellitus Cataract Visual impairment Rod-cone dystrophy Constipation Hyporeflexia Areflexia Visual loss Short neck Blindness Renal insufficiency Protruding ear Hepatic encephalopathy Sudden cardiac death Periventricular leukomalacia Hyperphosphaturia Muscle cramps Postural instability Polyneuropathy Nephropathy Hirsutism Polymicrogyria Nausea Peripheral axonal neuropathy Ichthyosis Confusion Anal atresia Nyctalopia Thoracolumbar kyphosis Malabsorption Nausea and vomiting Carious teeth Congenital cataract Respiratory arrest Arthrogryposis multiplex congenita Lethargy Dilated cardiomyopathy Microvesicular hepatic steatosis Stroke Attention deficit hyperactivity disorder Hemiplegia/hemiparesis Abnormality of neuronal migration Abnormality of the skeletal system Edema of the dorsum of hands Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Abnormal mitochondrial morphology Prominent ear helix Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Abnormal nerve conduction velocity Auditory hallucinations Generalized muscle weakness Morphological abnormality of the inner ear Elevated hepatic transaminase Aciduria Hemoptysis Increased inflammatory response Hypertensive crisis Arteritis Gastrointestinal infarctions Abnormal endocardium morphology Ascending tubular aorta aneurysm Arterial stenosis Abnormal pattern of respiration Inflammatory abnormality of the eye Abnormality of the dentition Gangrene Abnormal heart valve morphology Delayed myelination Psoriasiform dermatitis Aortic regurgitation Vasculitis Skin ulcer Limb muscle weakness Myocardial infarction Arthralgia Increased total bilirubin Severe lactic acidosis Spastic tetraparesis Bradycardia Tetraparesis Gastroparesis Leber optic atrophy Overlapping toe Rhabdomyolysis Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Severe muscular hypotonia Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Respiratory insufficiency due to muscle weakness Heart block Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Leukoencephalopathy Prolonged QT interval Hyperkalemia Tachypnea Vestibular dysfunction Bundle branch block Adrenal insufficiency Xerostomia Hypoparathyroidism Persistence of primary teeth Retinal pigment epithelial atrophy Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Aminoaciduria Left ventricular failure Seborrheic dermatitis Anterior hypopituitarism Spastic tetraplegia Progressive muscle weakness Visual hallucinations Tubulointerstitial nephritis Aortic dissection Facial diplegia Congenital hip dislocation Delusions Posterior subcapsular cataract Spastic/hyperactive bladder


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Generalized tonic-clonic seizures, related diseases and genetic alterations