Dysarthria, and Abnormal heart morphology

Diseases related with Dysarthria and Abnormal heart morphology

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

Top matches:

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY Is also known as encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Motor delay
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

Other less relevant matches:

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.

CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA Is also known as childhood-onset spasticity with variant non-ketotic hyperglycinemia|spasticity-ataxia-gait anomalies syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA

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

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

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

Top 5 symptoms//phenotypes associated to Dysarthria and Abnormal heart morphology

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Abnormal heart morphology. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gait ataxia Generalized hypotonia Cognitive impairment Gait disturbance Chorea Seizures Tremor Pneumonia Babinski sign Global developmental delay Choreoathetosis Abnormality of movement Visual impairment Optic atrophy Myoclonus Hyperreflexia Motor delay

Rare Symptoms - Less than 30% cases

Abnormality of the cerebral white matter Peripheral neuropathy Depressivity Ragged-red muscle fibers Skeletal muscle atrophy Loss of speech Progressive spasticity Intellectual disability Strabismus Ventricular septal defect Respiratory insufficiency Increased serum lactate Unsteady gait Abnormal pyramidal sign Intention tremor Short stature Reduced visual acuity Muscular dystrophy Elevated serum creatine phosphokinase Areflexia Myopathy Left ventricular hypertrophy Muscle weakness Muscular hypotonia Hypertonia Difficulty walking Dyskinesia Microcephaly Dilated cardiomyopathy Anxiety Myofibrillar myopathy Limb-girdle muscular dystrophy Centrally nucleated skeletal muscle fibers Achilles tendon contracture EMG abnormality Hyporeflexia of lower limbs Tetraplegia Autophagic vacuoles Progressive distal muscle weakness Muscle fiber cytoplasmatic inclusion bodies Poor speech Muscle stiffness Lower limb muscle weakness Generalized muscle weakness Polyneuropathy Distal amyotrophy Hypoplasia of the corpus callosum Spastic tetraplegia Incoordination Pituitary adenoma Limb muscle weakness Distal muscle weakness Myalgia Proximal muscle weakness Hyporeflexia Increased CSF lactate Dysphagia Feeding difficulties Irritability Developmental regression Anemia Aspiration Atrial fibrillation Cardiomegaly Abnormality of the musculature Rhabdomyolysis Generalized-onset seizure Ichthyosis Hepatosplenomegaly Arrhythmia Aspiration pneumonia Motor axonal neuropathy Behavioral abnormality Acanthocytosis Hepatomegaly Loss of ability to walk in early childhood Obsessive-compulsive behavior Spastic diplegia Obesity Delayed speech and language development Phonic tics Abetalipoproteinemia Leukodystrophy Personality disorder Short attention span Spinal cord lesion Spastic dysarthria Spastic ataxia Hyperglycinemia Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Tics Splenomegaly Congenital hypothyroidism Flexion contracture Cerebellar atrophy Truncal ataxia Dysphonia Global brain atrophy Mild microcephaly Episodic ataxia Loss of ability to walk Dementia Brain atrophy Mental deterioration Neurodegeneration Amenorrhea Apraxia Leukoencephalopathy Premature ovarian insufficiency Ventricular hypertrophy Coma Congenital nystagmus Myokymia Congestive heart failure Muscular hypotonia of the trunk Involuntary movements Delayed gross motor development Resting tremor Limb hypertonia Orofacial dyskinesia Lactic acidosis Paroxysmal dyskinesia Facial myokymia Headache Encephalopathy Acidosis Confusion Vertigo Secondary amenorrhea Progressive gait ataxia 3-Methylglutaconic aciduria Paraplegia Abnormality of the thyroid gland Parkinsonism with favorable response to dopaminergic medication Increased thyroid-stimulating hormone level Compensated hypothyroidism Thyroid dysgenesis Spastic paraplegia Neutropenia Athetosis Aciduria Abnormality of extrapyramidal motor function Horizontal nystagmus Paraparesis Spastic paraparesis Restlessness Interstitial pulmonary abnormality Neonatal respiratory distress Periventricular leukomalacia Hypothyroidism Progressive leukoencephalopathy Fever Respiratory distress Atrial septal defect Recurrent respiratory infections Respiratory failure Apnea Hyperkinesis Respiratory tract infection Abnormal cardiac septum morphology Sleep disturbance Asthma Abnormal lung morphology Recurrent pneumonia Infantile muscular hypotonia Wolff-Parkinson-White syndrome


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