Anemia, and Dysarthria

Diseases related with Anemia and Dysarthria

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


Top matches:

Low match X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA


X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME


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

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

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Other less relevant matches:

Low match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Low match MCLEOD SYNDROME; MCLDS


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

Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Low match GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Top 5 symptoms//phenotypes associated to Anemia and Dysarthria

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Spasticity Abnormality of movement Generalized-onset seizure Myoclonus Thrombocytopenia Hyperreflexia Spastic tetraparesis Nystagmus Muscle weakness Cognitive impairment Falls Chorea Fatigue Respiratory distress Gait ataxia Hypertonia Intention tremor Splenomegaly

Rare Symptoms - Less than 30% cases


Hepatomegaly Osteopenia Mental deterioration Abnormal pyramidal sign Abnormality of extrapyramidal motor function Leukoencephalopathy Hemiplegia Tetraparesis Intellectual disability, mild Cerebral atrophy Irritability Dyskinesia Hepatosplenomegaly Depressivity Hemolytic anemia Neurodegeneration Choreoathetosis Progressive neurologic deterioration Cardiomyopathy Involuntary movements Ophthalmoplegia Lethargy Slurred speech Delayed speech and language development Acidosis Failure to thrive Behavioral abnormality Generalized hypotonia Gait disturbance Renal insufficiency Muscular hypotonia Peripheral neuropathy Hyperactive deep tendon reflexes Neutropenia Action tremor Dementia Dysmetria Atrial fibrillation Muscular dystrophy Dilated cardiomyopathy Ichthyosis Cardiomegaly EMG abnormality Aspiration Anxiety Obsessive-compulsive behavior Abnormality of the musculature Rhabdomyolysis Aspiration pneumonia Motor axonal neuropathy Acanthocytosis Psychotic mentation Areflexia Pneumonia Coma Elevated serum acid phosphatase Pancreatitis Increased cerebral lipofuscin Anorexia Skeletal muscle atrophy Dehydration Myopathy Nausea and vomiting Elevated serum creatine phosphokinase Stroke Abdominal pain Immunodeficiency Optic atrophy Arrhythmia Feeding difficulties Personality disorder Increased level of L-pyroglutamic acid in urine Tics Glutathione synthetase deficiency Abetalipoproteinemia Muscle fibrillation Metabolic acidosis Cerebral palsy Hypersplenism Hyperkinesis Polyuria Nausea Recurrent infections Increased serum ferritin Aciduria Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Vomiting Aceruloplasminemia Decreased serum iron Sepsis Torticollis Phonic tics Poor speech Elevated hepatic iron concentration Chronic metabolic acidosis Congestive heart failure Diabetes mellitus Hypothyroidism Difficulty walking Rigidity Compensated hemolytic anemia Confusion Type I diabetes mellitus Retinal degeneration Increased reactive oxygen species production Renal tubular acidosis Recurrent bacterial infections Cirrhosis Parkinsonism Pigmentary retinopathy Memory impairment Erlenmeyer flask deformity of the femurs Hypoplasia of the corpus callosum Loss of consciousness Gliosis Focal segmental glomerulosclerosis Glomerulopathy Demyelinating peripheral neuropathy Normochromic anemia Abnormal glycosylation Mild proteinuria Abnormality of the cerebral white matter Inability to walk Gastrointestinal hemorrhage Glomerulosclerosis Cerebral calcification Hemiparesis Leukodystrophy Loss of speech Abnormality of the vasculature Microcephaly EEG abnormality Aggressive behavior Postural tremor Hypoalbuminemia Generalized tonic-clonic seizures Microcytic anemia Strabismus Intrauterine growth retardation Abnormality of metabolism/homeostasis Babinski sign Neurological speech impairment Clonus Incoordination Dysdiadochokinesis Hypochromic microcytic anemia Decreased nerve conduction velocity Sideroblastic anemia Nonprogressive cerebellar ataxia Dysphagia Cerebellar atrophy Proteinuria Unsteady gait Stage 5 chronic kidney disease Nephropathy Nephrotic syndrome Intellectual disability, moderate Paresthesia Cachexia Increased serum lactate Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Scoliosis Encephalopathy Respiratory failure Dyspnea Developmental regression Lactic acidosis Optic disc pallor Focal aware seizure Exotropia External ophthalmoplegia Failure to thrive in infancy Stridor Brisk reflexes Abnormality of the periventricular white matter Abnormal cerebellum morphology Bone pain Upper limb dysmetria Jerky head movements Migraine Focal impaired awareness seizure Focal-onset seizure Specific learning disability Frequent falls Lower limb spasticity Limb ataxia Progressive microcephaly Horizontal nystagmus Absence seizures Impulsivity Paroxysmal dystonia Atonic seizures Reticulocytosis Hand tremor Episodic ataxia Torsion dystonia Abnormality of the head Migraine without aura Limb dysmetria Paroxysmal dyskinesia Hyperammonemia



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