Cardiomyopathy, and Hyperreflexia

Diseases related with Cardiomyopathy and Hyperreflexia

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


Top matches:

Low match FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA


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

Low match MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA


MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

Related symptoms:

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


SOURCES: ORPHANET MENDELIAN

More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


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

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Other less relevant matches:

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

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Low match ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME


Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

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 HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1


Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hyperreflexia

Symptoms // Phenotype % cases
Increased serum lactate Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Hyperreflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Acidosis Seizures Muscle weakness Nystagmus Encephalopathy Hypertrophic cardiomyopathy Feeding difficulties Babinski sign Optic atrophy Lactic acidosis Hypertonia Cerebral atrophy Muscular hypotonia Peripheral neuropathy Motor delay Dysarthria Ataxia Tremor Congestive heart failure Growth delay Muscular hypotonia of the trunk Gait disturbance Intrauterine growth retardation Abnormality of movement Delayed myelination Intellectual disability

Rare Symptoms - Less than 30% cases


Increased CSF lactate Hyporeflexia Ragged-red muscle fibers Exercise intolerance Skeletal muscle atrophy Dyspnea Cerebellar atrophy Intellectual disability, severe Fatigue Failure to thrive Myopathy Anemia Apnea Hypokinesia Respiratory insufficiency Dyskinesia Visual impairment Progressive spastic paraplegia Difficulty walking Chorea Limb hypertonia Abnormal pyramidal sign Lower limb pain Choreoathetosis Dilated cardiomyopathy Involuntary movements Leukodystrophy Emotional lability Gait ataxia Hypertrichosis Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Focal T2 hyperintense basal ganglia lesion Microcephaly Low-set ears High palate Depressed nasal bridge Epicanthus Myoclonus Ophthalmoplegia Pigmentary retinopathy Generalized amyotrophy Dysmetria Tetraplegia Spastic tetraplegia Amblyopia Exotropia Leukoencephalopathy Athetosis Brisk reflexes Epileptic spasms Progressive cerebellar ataxia Diffuse cerebral atrophy Multifocal seizures Mitochondrial encephalopathy Hearing impairment Strabismus Ptosis Ventricular septal defect Hypoplasia of the corpus callosum Hepatomegaly Metabolic acidosis Vomiting Macrocytic anemia Neuronal loss in central nervous system Optic disc pallor Oligohydramnios Intention tremor Progressive muscle weakness Respiratory insufficiency due to muscle weakness Decreased nerve conduction velocity Cholelithiasis Abnormality of immune system physiology Unsteady gait Diaphragmatic paralysis Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Hemolytic anemia Limb muscle weakness Small hand Basal ganglia cysts Aggressive behavior Bradykinesia Cholestasis Decreased liver function Global brain atrophy Poor eye contact Progressive encephalopathy Fulminant hepatic failure Respiratory distress Pallor Splenomegaly Kyphosis Recurrent infections Areflexia Recurrent respiratory infections Respiratory failure Jaundice Respiratory tract infection Neurological speech impairment Ventriculomegaly Rigidity Progressive external ophthalmoplegia Febrile seizures EMG abnormality Impaired vibration sensation in the lower limbs Slurred speech Ophthalmoparesis Multiple lipomas Progressive sensorineural hearing impairment Mild global developmental delay Mental deterioration Increased serum pyruvate Increased adipose tissue Lower limb spasticity Abnormal cerebellum morphology Peripheral axonal neuropathy Diabetes mellitus Facial myokymia Chest pain Distal lower limb muscle weakness Narrow mouth Spastic paraparesis Spastic paraplegia Paraplegia Neutropenia Aciduria Abnormality of extrapyramidal motor function Horizontal nystagmus Paraparesis Restlessness Myalgia 3-Methylglutaconic aciduria Sensorineural hearing impairment Hypertension Cognitive impairment Short stature Leg muscle stiffness Abnormality of cardiovascular system morphology Supraventricular arrhythmia Paroxysmal dyskinesia Orofacial dyskinesia Hypoglycemia Abnormal enzyme/coenzyme activity Opisthotonus Weak cry Hypothermia Severe lactic acidosis Abnormal renal physiology Abnormality of the renal tubule Hyperalaninemia Decreased activity of mitochondrial complex II Bradycardia Decreased activity of mitochondrial complex III Delayed speech and language development Anxiety Reduced visual acuity Absent speech Thrombocytopenia Rod-cone dystrophy Aminoaciduria Postnatal microcephaly Malabsorption Glucose intolerance Poor speech Paresthesia Myokymia Cirrhosis Triangular face Brain atrophy Blue sclerae Exertional dyspnea Left ventricular hypertrophy Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Resting tremor Delayed gross motor development Small for gestational age Decreased fetal movement Ventricular hypertrophy Central nervous system degeneration



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