Ataxia, and Hypertrophic cardiomyopathy

Diseases related with Ataxia and Hypertrophic cardiomyopathy

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


Top matches:

Low match SARCOSINEMIA


Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.

SARCOSINEMIA Is also known as sard deficiency|sardhd|sarcosine dehydrogenase complex deficiency|sardh deficiency|hypersarcosinemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SARCOSINEMIA

Low match MUSCULAR DYSTROPHY, SELCEN TYPE


Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUSCULAR DYSTROPHY, SELCEN TYPE

Low match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2


Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Low match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Low match LEIGH SYNDROME WITH LEUKODYSTROPHY


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

Low match FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3


Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Low match ATAXIA WITH VITAMIN E DEFICIENCY


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

Low match HSD10 MITOCHONDRIAL DISEASE; HSD10MD


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

Low match DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD


DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

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

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness

Common Symptoms - More than 50% cases


Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Lactic acidosis Acidosis Peripheral neuropathy Increased serum lactate Failure to thrive Hepatomegaly Metabolic acidosis Tremor Spasticity Intellectual disability Decreased activity of mitochondrial respiratory chain Developmental regression Visual impairment Dilated cardiomyopathy Cognitive impairment Feeding difficulties Gait ataxia Dysarthria Aciduria Hearing impairment Severe lactic acidosis Nystagmus Hypoglycemia

Rare Symptoms - Less than 30% cases


Apathy Progressive neurologic deterioration Congestive heart failure Abnormality of movement Intellectual disability, severe Hypertonia Slurred speech Blindness Fatigue Mental deterioration Vomiting Visual loss Motor delay Absent speech Myoclonus Respiratory failure Lethargy Leukodystrophy Neurological speech impairment Decreased activity of the pyruvate dehydrogenase complex Growth delay Arrhythmia Hyperreflexia Gait disturbance Ragged-red muscle fibers Sensorineural hearing impairment Abnormal pyramidal sign Pes cavus Elevated serum creatine phosphokinase Myopathy Respiratory insufficiency Flexion contracture Scoliosis Tetraparesis Lower limb muscle weakness Intellectual disability, mild Cerebral atrophy Abnormality of visual evoked potentials Hypothermia Hypercholesterolemia Dysdiadochokinesis Hemiplegia/hemiparesis Steatorrhea Decreased activity of mitochondrial complex III Hypertriglyceridemia Neonatal hypoglycemia Patent foramen ovale Severe muscular hypotonia Polycythemia Exertional dyspnea Opisthotonus Brisk reflexes Abnormality of retinal pigmentation Sensory neuropathy Decreased activity of mitochondrial complex IV Rod-cone dystrophy Skeletal muscle atrophy Concentric hypertrophic cardiomyopathy Methemoglobinemia Decreased activity of mitochondrial complex I Areflexia Vegetative state Diabetes mellitus Dysmetria Abnormality of the nervous system Prolonged prothrombin time Organic aciduria Poor suck Optic neuropathy Rhabdomyolysis Malabsorption Nyctalopia Incoordination Spinocerebellar tract degeneration Gastrointestinal dysmotility Retinal degeneration Neurodegeneration Abnormal mitochondrial morphology Decreased fetal movement Tetraplegia Chorea Dehydration Loss of ability to walk Spastic tetraplegia Diffuse cerebral atrophy Rigidity Mitochondrial myopathy Choreoathetosis Restlessness Hallucinations Agitation Athetosis Abnormality of mitochondrial metabolism Drooling Spastic tetraparesis Aggressive behavior Cerebral cortical atrophy Horizontal nystagmus Attention deficit hyperactivity disorder Fat malabsorption Increased LDL cholesterol concentration Xanthelasma Decreased liver function Abetalipoproteinemia Vitamin E deficiency Intention tremor Generalized muscle weakness Hepatic failure Abnormality of the liver Persistent lactic acidosis Elevated hepatic transaminase Abdominal pain Tendon xanthomatosis Hyperactivity Pain Microcephaly Progressive choreoathetosis Delayed speech and language development Dysphagia Sensorimotor neuropathy Bradycardia Peripheral axonal neuropathy Restrictive cardiomyopathy Toe walking Steppage gait Generalized amyotrophy Restrictive ventilatory defect Spinal rigidity Axonal loss Thoracic scoliosis Demyelinating peripheral neuropathy Myofibrillar myopathy Nasal speech Skeletal myopathy Muscle fiber splitting Diaphragmatic paralysis Hypertension Abnormality of cardiovascular system morphology Dyspnea Myalgia Chest pain Febrile seizures Impaired vibratory sensation Easy fatigability Exercise intolerance Facial palsy Pulmonic stenosis Loss of speech Glutaric aciduria Hypersarcosinemia Abnormality of the skeletal system Hyporeflexia Difficulty walking Proximal muscle weakness Paralysis EMG: myopathic abnormalities Muscular dystrophy Limb muscle weakness Distal sensory impairment Polyneuropathy Sensory impairment Mitral regurgitation Abnormal lung morphology Knee flexion contracture Scapular winging EMG abnormality Ophthalmoparesis Feeding difficulties in infancy Progressive cerebellar ataxia Sinus bradycardia Hyperalaninemia Strabismus Ptosis Anemia Ventricular septal defect Apnea Ophthalmoplegia Pigmentary retinopathy Ketonuria Hypertrichosis Emotional lability Progressive spastic paraplegia Increased CSF lactate Focal T2 hyperintense basal ganglia lesion Intrauterine growth retardation Ventriculomegaly Patent ductus arteriosus Neonatal hypotonia Wolff-Parkinson-White syndrome Aspiration pneumonia Multiple lipomas Abnormality of extrapyramidal motor function Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Mild global developmental delay Lower limb pain Increased serum pyruvate Increased adipose tissue Respiratory distress Epileptic encephalopathy Poor head control Pleural effusion Malnutrition Hyperglycinemia Nonketotic hyperglycinemia Small for gestational age Poor speech Tachycardia Ascites Cardiomegaly Infantile muscular hypotonia Recurrent encephalopathy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Autism, related diseases and genetic alterations Brachydactyly and Spina bifida, related diseases and genetic alterations Myopathy and Cyanosis, related diseases and genetic alterations Skeletal muscle atrophy and Nephropathy, related diseases and genetic alterations Ptosis and Dyspnea, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more