Dysarthria, and Stage 5 chronic kidney disease

Diseases related with Dysarthria and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Dysarthria and Stage 5 chronic kidney disease 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

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Other less relevant matches:

Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Medium match CAMOS SYNDROME

CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

CAMOS SYNDROME Is also known as scar5|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CAMOS SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Renal insufficiency Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Nephropathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Generalized hypotonia Proteinuria Short stature Cardiomyopathy Fever Respiratory insufficiency Abnormality of the kidney Strabismus Muscle weakness Ptosis Thrombocytopenia Global developmental delay Hypertension Anemia

Rare Symptoms - Less than 30% cases

Postaxial polydactyly Choreoathetosis Polydactyly Scoliosis Optic atrophy Growth delay Muscular hypotonia Vomiting Molar tooth sign on MRI Nephronophthisis Dysphasia Coma Diarrhea Hyperechogenic kidneys Tubulointerstitial nephritis Motor delay Chronic kidney disease Cognitive impairment Dystonia Oculomotor apraxia Abnormality of the eye Abnormality of eye movement Dilatation Apraxia Falls Low-set ears Hearing impairment Hypertelorism Renal hypoplasia Aciduria Cerebellar atrophy Dysphagia Failure to thrive Epicanthus Tremor Nephrotic syndrome Wide nasal bridge Fatigue Dehydration Delayed puberty Hypophosphatemia External ophthalmoplegia Respiratory insufficiency due to muscle weakness Pigmentary retinopathy Malabsorption Exercise intolerance Hypergonadotropic hypogonadism Ragged-red muscle fibers Photophobia Corneal opacity Abnormal pyramidal sign Easy fatigability Dysphonia Retinopathy Amenorrhea Hypothyroidism Headache Nasal speech Generalized amyotrophy Spinal rigidity Primary amenorrhea Limb muscle weakness Generalized muscle weakness Arrhythmia Renal tubular dysfunction Corneal crystals Nephrogenic diabetes insipidus Polydipsia Portal hypertension Retinal pigment epithelial mottling Hypokalemia Skeletal muscle atrophy Congestive heart failure Growth abnormality Kyphosis Cranial nerve paralysis Recurrent infections Hyporeflexia Nausea Elevated serum creatine phosphokinase Cerebellar hypoplasia Hypogonadism Respiratory failure Dyspnea Proximal muscle weakness Aminoaciduria Facial palsy Dilated cardiomyopathy Type I diabetes mellitus Ophthalmoplegia Rickets Stereotypy Elevated intracellular cystine Autism Progressive external ophthalmoplegia Postural instability Leukopenia Spastic tetraparesis Pancreatitis Paraparesis Tetraparesis Pancytopenia Metabolic acidosis Ischemic stroke Nausea and vomiting Lethargy Neurological speech impairment Stroke Acidosis Diabetes mellitus Immunodeficiency Hyperammonemia Macrocytic anemia Hepatomegaly Cerebellar hemorrhage Aplasia/Hypoplasia of the cerebellum Abnormality of the skin Brain atrophy Spasticity Metabolic ketoacidosis Chronic metabolic acidosis Abnormal globus pallidus morphology Ketonuria Tubulointerstitial abnormality Methylmalonic acidemia Hyperglycinemia Homocystinuria Methylmalonic aciduria Organic aciduria Delayed CNS myelination Respiratory distress Decreased numbers of nephrons Proximal amyotrophy Thin upper lip vermilion Long face Poor speech Microtia Abnormal cardiac septum morphology Autistic behavior Abnormality of the nervous system Micropenis Renal agenesis Hypoplasia of the corpus callosum Anteverted nares Delayed speech and language development Feeding difficulties Cryptorchidism Abnormal facial shape Spinal deformities Vesicoureteral reflux Ambiguous genitalia Bifid ureter Ectopic kidney Urethral valve Hypoplastic helices Uterus didelphys Anteverted ears Thickened helices Poor eye contact Deep philtrum Oligohydramnios Abnormality of the urinary system Spina bifida occulta Horseshoe kidney Spina bifida Narrow face Recurrent urinary tract infections Renal dysplasia Intellectual disability, mild Inguinal hernia Myopathy Agenesis of permanent teeth Abnormality of the cerebral white matter Carious teeth Facial asymmetry Oral cleft Abnormal cerebellum morphology Bifid uvula Underdeveloped nasal alae Hypoplasia of dental enamel Hepatic fibrosis Microretrognathia Cutaneous syndactyly Polycystic kidney dysplasia Radial deviation of finger Milia Atrioventricular canal defect Cleft lip Increased number of teeth Median cleft lip Arachnoid cyst Myelomeningocele Abnormal cortical gyration Bifid tongue Abnormality of the pancreas Ovarian cyst Dry hair Porencephalic cyst Hepatic cysts Pancreatic cysts Deviation of finger Narrow naris Sparse hair Telecanthus Tongue nodules Demyelinating peripheral neuropathy Peripheral neuropathy Dementia Myoclonus Gait ataxia Unsteady gait Generalized-onset seizure Intention tremor Decreased nerve conduction velocity Hypoalbuminemia Glomerulosclerosis Postural tremor Focal segmental glomerulosclerosis Glomerulopathy Action tremor Normochromic anemia Agenesis of corpus callosum Hydrocephalus Alopecia Abnormal heart morphology Clinodactyly Depressivity Syndactyly Abnormality of the dentition Frontal bossing Abnormal glycosylation Downslanted palpebral fissures Brachydactyly High palate Cleft palate Micrognathia Mild proteinuria Lobulated tongue Hypothalamic hamartoma Gait disturbance Renal cyst Abnormal lactate dehydrogenase activity Schistocytosis Decreased serum complement C3 Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Nystagmus Talipes equinovarus Hernia Apnea Genu valgum Retinal dystrophy Postaxial hand polydactyly Microangiopathic hemolytic anemia Abnormal corpus callosum morphology Visual impairment Absence of renal corticomedullary differentiation Neonatal breathing dysregulation Brainstem dysplasia Episodic tachypnea Meningoencephalocele Central apnea Encephalocele Severe postnatal growth retardation Occipital encephalocele Abnormal retinal morphology Hypoplasia of the brainstem Mutism Horizontal nystagmus Azotemia Anuria Gray matter heterotopias Loss of speech Alveolar ridge overgrowth Multiple glomerular cysts Abnormality of toe Trident hand Difficulty walking Muscular hypotonia of the trunk Developmental regression Dyskinesia Frequent falls Amblyopia Truncal ataxia Nephritis Hyperkalemia Limb hypertonia Camptocormia Increased blood urea nitrogen Abnormality of blood and blood-forming tissues Complement deficiency Hemolytic-uremic syndrome Enterocolitis Elevated serum creatinine Reticulocytosis Acute kidney injury Hyperlipidemia Edema Purpura Hemiparesis Hypertriglyceridemia Hematuria Hemolytic anemia Abnormality of metabolism/homeostasis Progressive extrapyramidal movement disorder


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Lymphoma and Proximal muscle weakness, related diseases and genetic alterations Brachydactyly and Nephropathy, related diseases and genetic alterations Cleft palate and Myalgia, related diseases and genetic alterations Short stature and Primary amenorrhea, related diseases and genetic alterations Global developmental delay and Abnormality of the metaphysis, related diseases and genetic alterations Global developmental delay and Heterotopia, related diseases and genetic alterations