Dysarthria, and Nephropathy

Diseases related with Dysarthria and Nephropathy

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

Top matches:

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

High match SNEDDON SYNDROME

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Other less relevant matches:

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

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

High match WOLFRAM SYNDROME

Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM 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

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

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

Top 5 symptoms//phenotypes associated to Dysarthria and Nephropathy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Dementia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pain Visual impairment Headache Hemiparesis Stroke Migraine Intellectual disability Global developmental delay Sensorineural hearing impairment Nystagmus Hearing impairment Renal insufficiency Anemia Memory impairment Cerebellar atrophy Hyperreflexia Behavioral abnormality Elevated serum creatine phosphokinase Motor delay Proteinuria Optic atrophy Glomerulopathy Tremor Peripheral neuropathy Lactic acidosis Vasculitis Microcephaly Hemiplegia Intellectual disability, mild Dystonia Aphasia Vomiting Acidosis Hypertrophic cardiomyopathy Generalized hypotonia Gait disturbance Cognitive impairment Arrhythmia Encephalopathy Cerebral atrophy Dysphagia Fatigue Malabsorption Mental deterioration Nephrotic syndrome Facial palsy Bilateral sensorineural hearing impairment Focal segmental glomerulosclerosis Hypogonadism Constipation Hematuria Cataract Hallucinations Gait ataxia Visual loss Spasticity Confusion Developmental regression Muscle cramps Myoclonus

Rare Symptoms - Less than 30% cases

Hyporeflexia Areflexia Congestive heart failure Diarrhea Sensory impairment Leukoencephalopathy Fever Elevated hepatic transaminase Weight loss Spastic paraparesis Retinal hemorrhage Retinopathy Paresthesia Cerebral hemorrhage Apraxia Clonus Specific learning disability Depressivity Abnormal autonomic nervous system physiology Delayed puberty Ophthalmoplegia Feeding difficulties in infancy Glaucoma Cerebral cortical atrophy Diabetes mellitus Myopathy Respiratory insufficiency Congenital cataract Hypothyroidism Myoglobinuria Rhabdomyolysis Cardiac arrest Oral-pharyngeal dysphagia Spastic tetraplegia Increased serum lactate Abnormal cerebellum morphology Metabolic acidosis Tachycardia Paraparesis Polyneuropathy Peripheral axonal neuropathy Coma Vertigo Scoliosis Short stature Stroke-like episode Hemianopia Cerebral ischemia Transient ischemic attack Psychomotor deterioration Visual field defect Ophthalmoparesis Personality changes Intracranial hemorrhage Chorea Growth delay Hypertonia Myalgia Hypertension Failure to thrive Ragged-red muscle fibers Skeletal muscle atrophy Respiratory distress Rod-cone dystrophy Glomerulosclerosis Exercise intolerance Decreased nerve conduction velocity Generalized-onset seizure Postural instability Status epilepticus Muscular hypotonia Amaurosis fugax Cachexia Atrioventricular block Recurrent urinary tract infections Arthritis EEG abnormality Hypertrichosis Atrial fibrillation Ventricular hypertrophy Psychosis Photophobia Neurological speech impairment Jaundice Anxiety Type II diabetes mellitus Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Apnea Amenorrhea Hyperextensible skin Pulmonary arterial hypertension Gastroesophageal reflux Involuntary movements Autism Abnormality of retinal pigmentation Gingival overgrowth Truncal ataxia Osteoporosis Anorexia Progressive neurologic deterioration Progressive muscle weakness Hypergonadotropic hypogonadism Decreased body weight Left ventricular hypertrophy Cerebellar hypoplasia Delayed skeletal maturation Kyphosis Oculomotor apraxia Abnormality of the dentition Dyspnea Failure to thrive in infancy Abnormality of the pinna Dilated cardiomyopathy Feeding difficulties Sudden cardiac death Ptosis Generalized myoclonic seizures Hirsutism Polymicrogyria Nausea Ichthyosis Dysmetria Attention deficit hyperactivity disorder Anal atresia Nausea and vomiting Carious teeth Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Hypertelorism Hepatomegaly Glomerulonephritis Scanning speech Blindness Hip dysplasia Short neck Protruding ear Generalized amyotrophy Erythema Tubular atrophy Steroid-resistant nephrotic syndrome Nyctalopia Glutaric aciduria Abnormality of the liver Ventriculomegaly Recurrent myoglobinuria Abdominal pain Exercise-induced myoglobinuria Rapid neurologic deterioration Crescentic glomerulonephritis Cerebral visual impairment Aplasia/Hypoplasia of the cerebellum EMG abnormality Speech apraxia Persistence of primary teeth Writer's cramp Muscle fiber atrophy Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Left ventricular failure Spontaneous hematomas Seborrheic dermatitis Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Leber optic atrophy Gastroparesis Delusions Cochlear malformation Morphological abnormality of the inner ear 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 Edema of the dorsum of hands Auditory hallucinations Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Cardiorespiratory arrest Posterior subcapsular cataract Generalized hirsutism Hyperkinesis Mask-like facies Bifid scrotum Intestinal obstruction Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Hypercalciuria Chronic kidney disease Growth abnormality Easy fatigability Goiter Abnormality of neuronal migration Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Type I diabetes mellitus Hypogonadotrophic hypogonadism Hemiplegia/hemiparesis Overlapping toe Progressive external ophthalmoplegia Pulmonary embolism Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Primary adrenal insufficiency Adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Dysphasia Vestibular dysfunction Bundle branch block Pancytopenia Arterial tortuosity Aciduria Podagra Leukodystrophy Sinusitis Telangiectasia Progressive visual loss Cirrhosis Lower limb muscle weakness Reduced visual acuity Edema Neoplasm Bladder stones Lower limb hyperreflexia Excessive purine production Hyperuricosuria Facial grimacing Testicular atrophy Focal dystonia Dyslexia Megaloblastic anemia Gout Self-mutilation Elevated erythrocyte sedimentation rate Abnormality of the periventricular white matter Opisthotonus Progressive forgetfulness Ventricular fibrillation Hyperammonemia Drooling Ventricular tachycardia Neurodegeneration Hypoglycemia Absent speech Punctate vasculitis skin lesions Diminished ability to concentrate Focal white matter lesions Aseptic necrosis Vasculitis in the skin Retinal exudate Central nervous system degeneration Limb pain Micronodular cirrhosis Abnormality of the retinal vasculature Brain neoplasm Macular edema Raynaud phenomenon Chronic sinusitis Hyperuricemia Athetosis Spastic diplegia Abnormal glycosylation Acrocyanosis Thrombocytosis Atrophic scars Cutis marmorata Heart murmur Systemic lupus erythematosus Myocardial infarction Paralysis Mild proteinuria Normochromic anemia Peripheral arterial stenosis Demyelinating peripheral neuropathy Action tremor Postural tremor Hypoalbuminemia Intention tremor Falls Stage 5 chronic kidney disease Unsteady gait Thrombocytopenia Arteriovenous malformation Facial paralysis Proximal placement of thumb Hip dislocation Self-injurious behavior Cerebral palsy Finger clinodactyly Spastic gait Stereotypy Nephrolithiasis Clumsiness Choreoathetosis Abnormality of extrapyramidal motor function Irritability Arterial stenosis Aggressive behavior Rigidity Clinodactyly of the 5th finger Clinodactyly Delayed speech and language development Flexion contracture Lupus anticoagulant Antiphospholipid antibody positivity Vascular skin abnormality Thromboembolic stroke Myopathic facies Hyperactive deep tendon reflexes Progressive cerebellar ataxia Thalamic hemorrhage Rheumatoid arthritis Cardiomegaly Peripheral demyelination Neuronal loss in central nervous system Hypotension Urinary incontinence Gliosis Paraplegia Hydrocephalus Posterior leukoencephalopathy Malnutrition Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Impotence Axonal degeneration Migraine with aura Orthostatic hypotension due to autonomic dysfunction Hepatic failure Joint hyperflexibility Abnormal pyramidal sign Muscular hypotonia of the trunk Respiratory failure Abnormal facial shape Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Urinary retention Orthostatic hypotension Sensory ataxia Abnormal renal physiology Myelopathy Constrictive median neuropathy Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Neuritis Porencephalic cyst Poor coordination Polydipsia Microphthalmia Myopia Strabismus Abnormality of mesentery morphology Gastric ulcer Central apnea Male hypogonadism Dysuria Diabetes insipidus Abnormality of the urinary system Abnormality of the nervous system Gastrointestinal hemorrhage Sleep disturbance Joint stiffness Premature thelarche Elevated plasma acylcarnitine levels Premature pubarche Acute rhabdomyolysis Prolonged QTc interval Torsade de pointes Ketonuria Dilatation Corneal opacity Hypopigmentation of the fundus Scotoma Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Infantile spasms Congenital glaucoma Abnormality of the cerebral white matter Blurred vision Dysphonia Amblyopia Tetraplegia Renal cyst Microcornea Hypopigmentation of the skin Retinal detachment Astigmatism Hypermetropia Prominent ear helix


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