Dysarthria, and Hypertrophic cardiomyopathy

Diseases related with Dysarthria and Hypertrophic cardiomyopathy

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

Top matches:

LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Other less relevant matches:

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Medium match LEIGH SYNDROME; LS

Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

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

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Medium match NARP SYNDROME

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Hypertrophic cardiomyopathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Neurodegeneration Tremor Pigmentary retinopathy Acidosis Generalized hypotonia Spasticity Visual loss Sensorineural hearing impairment Gait disturbance Developmental regression Visual impairment Muscle weakness Peripheral neuropathy Lactic acidosis Arrhythmia Muscular hypotonia Cerebral atrophy Dysphagia Ophthalmoplegia Gait ataxia Asymmetric septal hypertrophy Strabismus Metabolic acidosis Drooling Difficulty walking Myopathy Blindness Rod-cone dystrophy Cognitive impairment Retinal degeneration Absent speech Ptosis Abnormality of movement Increased serum lactate Hypertrichosis Failure to thrive Emotional lability

Rare Symptoms - Less than 30% cases

Behavioral abnormality Rigidity Oral-pharyngeal dysphagia Retinal atrophy Hypertension Retinopathy Myoclonus Cerebral cortical atrophy Hypoglycemia Parkinsonism Abnormal cerebellum morphology Aggressive behavior Cataract Confusion Anxiety Chorea Spastic tetraplegia Progressive neurologic deterioration Dementia Pneumonia Mitochondrial myopathy Abnormal basal ganglia MRI signal intensity Constriction of peripheral visual field Elevated serum creatine phosphokinase External ophthalmoplegia Intellectual disability, severe Microcephaly Mental deterioration Elevated hepatic transaminase Nyctalopia Increased CSF lactate Neurological speech impairment Hypertonia Malabsorption Hyperreflexia Lower limb muscle weakness Dysmetria Sensory neuropathy Decreased activity of the pyruvate dehydrogenase complex Splenomegaly Leukodystrophy Dysdiadochokinesis Hepatomegaly Apnea Truncal ataxia Optic disc pallor Diabetes mellitus Skeletal muscle atrophy Gliosis Pallor Vitamin E deficiency Sensorimotor neuropathy Bradykinesia Copper accumulation in liver Abnormal transferrin saturation Myoglobinuria Abnormality of divalent inorganic cation homeostasis Fatigue Hypothyroidism Tachycardia Nephropathy Cardiac arrest Decreased liver function Ventricular tachycardia Hyperammonemia Ventricular fibrillation Myopathic facies Spastic diplegia Rhabdomyolysis Clonus Hyperbilirubinemia Increased total iron binding capacity Astrocytosis Action tremor Limb dystonia Polycythemia Abnormality of extrapyramidal motor function Axonal loss Abnormality of coagulation Steppage gait Toe walking Portal hypertension Hypomimic face Echolalia Esophageal varix Prolonged prothrombin time Decreased serum ferritin Poor fine motor coordination Abnormal myelination Hyperglycinemia Spastic paraparesis Hepatic encephalopathy Micronodular cirrhosis Unconjugated hyperbilirubinemia Abnormal globus pallidus morphology Generalized dystonia Abnormality of amino acid metabolism Pica Paraparesis Hyperactive deep tendon reflexes Dysostosis multiplex Poor coordination Involuntary movements Pain Ventriculomegaly Respiratory distress Vomiting Headache Babinski sign Dyspnea Proximal muscle weakness Irritability Paralysis Paresthesia Muscle cramps Generalized muscle weakness Overgrowth Hyperkinesis Cellular metachromasia Poor suck Sensory axonal neuropathy Infantile spasms Hyperventilation Progressive external ophthalmoplegia Heart block Progressive gait ataxia Breathing dysregulation Myoclonic spasms Retinal pigment epithelial mottling Retinal arteriolar tortuosity Necrotizing encephalopathy Abnormal mitochondria in muscle tissue Abnormal visual field test Short stature Ovoid thoracolumbar vertebrae Ketonuria Hyperactivity Torsade de pointes Prolonged QTc interval Acute rhabdomyolysis Premature pubarche Elevated plasma acylcarnitine levels Premature thelarche Low-set ears Flexion contracture Depressed nasal bridge Frontal bossing Anteverted nares Short neck Diarrhea Prominent forehead Coarse facial features Thickened ribs Joint stiffness Wide mouth Synophrys Thick eyebrow Hirsutism Sleep disturbance Thick lower lip vermilion Chronic diarrhea Progressive hearing impairment Recurrent upper respiratory tract infections Coarse hair Growth abnormality Gastrointestinal hemorrhage Heparan sulfate excretion in urine Neuronal loss in central nervous system Vertigo Postural instability Persistent lactic acidosis Choreoathetosis Hallucinations Horizontal nystagmus Spastic tetraparesis Abnormality of mitochondrial metabolism Athetosis Agitation Restlessness Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Progressive choreoathetosis Dehydration Cerebellar atrophy Depressivity Glaucoma Nevus Memory impairment Progressive visual loss Generalized-onset seizure Psychosis Clumsiness Aspiration Macular degeneration Mutism Tetraparesis Aciduria Progressive encephalopathy Abnormality of retinal pigmentation Anemia Ventricular septal defect Progressive cerebellar ataxia Progressive spastic paraplegia Decreased activity of mitochondrial respiratory chain Focal T2 hyperintense basal ganglia lesion Scoliosis Areflexia Pes cavus Abnormality of the nervous system Abnormal pyramidal sign Hypertriglyceridemia Hypercholesterolemia Tetraplegia Slurred speech Hemiplegia/hemiparesis Steatorrhea Abnormality of visual evoked potentials Spinocerebellar tract degeneration Fat malabsorption Increased LDL cholesterol concentration Xanthelasma Abetalipoproteinemia Tendon xanthomatosis Delayed speech and language development Intellectual disability, mild Mildly elevated creatine phosphokinase Aspiration pneumonia Polyneuropathy Abnormality of eye movement Macular dystrophy Abnormal retinal morphology Progressive sensorineural hearing impairment Glomerulopathy Abnormality of lipid metabolism Left bundle branch block Abnormal chorioretinal morphology Abnormal facial shape Respiratory insufficiency Respiratory failure Muscular hypotonia of the trunk Abnormality of the eye Peripheral demyelination Bundle branch block Incoordination Failure to thrive in infancy CNS demyelination Abnormal pattern of respiration Respiratory arrest Hepatocellular necrosis Mitochondrial respiratory chain defects Episodic metabolic acidosis Jaundice Abnormality of the liver Cirrhosis Hepatic steatosis Vestibular dysfunction Hyperglycemia Pendular nystagmus Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Undetectable electroretinogram Tapetoretinal degeneration Vegetative state Psychomotor deterioration Oromandibular dystonia Vacuolated lymphocytes Autophagic vacuoles Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Concentric hypertrophic cardiomyopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Cerebral degeneration Aplasia/Hypoplasia of the cerebellum Increased extraneuronal autofluorescent lipopigment Progressive inability to walk Congestive heart failure Renal insufficiency Constipation Myalgia Proteinuria Abnormality of the kidney Unsteady gait Bilateral sensorineural hearing impairment Type II diabetes mellitus Pancytopenia Ragged-red muscle fibers Corticospinal tract atrophy


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