Cardiomyopathy, and Babinski sign

Diseases related with Cardiomyopathy and Babinski sign

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


Top matches:

Medium match DPM3-CDG


DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).

DPM3-CDG Is also known as cdg1(dpm3)|cdg syndrome type io|cdg1o|carbohydrate deficient glycoprotein syndrome type io|congenital disorder of glycosylation type io|cdgio|cdg io|congenital disorder of glycosylation type 1o|cdg-io

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DPM3-CDG

Medium 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

Medium 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:

Medium 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

Medium 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

Medium match ADULT POLYGLUCOSAN BODY DISEASE


Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

Medium match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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

Medium match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Babinski sign

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Gait disturbance Ataxia Dystonia Dementia Congestive heart failure Optic atrophy Lactic acidosis Paresthesia Short stature Cognitive impairment Arrhythmia Dilated cardiomyopathy Global developmental delay Generalized hypotonia Seizures Intellectual disability Areflexia Nystagmus Rhabdomyolysis Visual impairment Dysarthria Gait ataxia Hypertrophic cardiomyopathy Chorea Motor delay Exercise intolerance Failure to thrive Acidosis Dyspnea Increased serum lactate Pigmentary retinopathy Elevated serum creatine phosphokinase Abnormal pyramidal sign Elevated hepatic transaminase Proximal muscle weakness Dysphagia Hypertonia Involuntary movements

Rare Symptoms - Less than 30% cases


Generalized muscle weakness Sensory neuropathy Anemia Anxiety Apnea Mitochondrial myopathy External ophthalmoplegia Ragged-red muscle fibers Abnormality of the cerebral white matter Oral-pharyngeal dysphagia Muscle cramps Sensory axonal neuropathy Respiratory distress Mental deterioration Neuronal loss in central nervous system Pallor Respiratory failure Cerebral atrophy Retinopathy Splenomegaly Hemolytic anemia Dyskinesia Optic disc pallor Tremor Progressive muscle weakness Vomiting Blindness Ventriculomegaly Behavioral abnormality Cerebral cortical atrophy Respiratory tract infection Developmental regression Ophthalmoplegia Impaired vibration sensation in the lower limbs Restlessness Lower limb spasticity Reduced tendon reflexes Abnormal mitochondria in muscle tissue Spastic paraplegia Abnormality of movement Paraplegia Difficulty walking Abnormality of extrapyramidal motor function Peripheral axonal neuropathy Growth delay Hyporeflexia Pain Supraventricular tachycardia Impaired pain sensation Sleep apnea Preeclampsia Ventricular arrhythmia Obsessive-compulsive behavior Personality changes Emotional lability Ventricular fibrillation Tics Bowel incontinence Ketonuria Motor axonal neuropathy Increased muscle fatiguability Acanthocytosis Insomnia Hyporeflexia of lower limbs Bipolar affective disorder Left ventricular noncompaction Excessive salivation Ventricular extrasystoles Left bundle branch block Orofacial dyskinesia Progressive external ophthalmoplegia Cardiac arrest Increased intramyocellular lipid droplets Hypoketotic hypoglycemia Abnormality of the amniotic fluid Recurrent myoglobinuria Left ventricular systolic dysfunction Prenatal maternal abnormality Hepatomegaly Decreased activity of mitochondrial complex II Depressivity Progressive leukoencephalopathy Hyperhidrosis Hepatosplenomegaly Rigidity Sensorimotor neuropathy Hemolytic-uremic syndrome Lower limb muscle weakness Confusion Paraganglioma Parkinsonism Memory impairment Generalized-onset seizure Atrial fibrillation Easy fatigability Left ventricular hypertrophy Hallucinations Ketosis Abnormal social behavior Personality disorder Retinal arteriolar tortuosity Flexion contracture Irritability Ptosis Paralysis Microcephaly Corticospinal tract atrophy Abnormal visual field test Nyctalopia Abnormal basal ganglia MRI signal intensity Necrotizing encephalopathy Retinal pigment epithelial mottling Rod-cone dystrophy Neurodegeneration Myoclonic spasms Breathing dysregulation Overgrowth Asymmetric septal hypertrophy Hyperkinesis Poor suck Progressive gait ataxia Constriction of peripheral visual field Infantile spasms Heart block Diarrhea Visual loss Leukoencephalopathy Hyporeflexia of upper limbs Congenital hip dislocation Generalized limb muscle atrophy Impaired temperature sensation Leukodystrophy Hyperventilation Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Abnormality of the astrocytes Absent speech Hearing impairment Strabismus Intellectual disability, severe Mitral regurgitation Spastic tetraplegia Generalized myoclonic seizures Tetraplegia Headache Encephalopathy Neonatal hypotonia Myoclonus Myoglobinuria Skin ulcer Hyperammonemia Delayed myelination Choreoathetosis Horizontal nystagmus Paraparesis Spastic paraparesis 3-Methylglutaconic aciduria Feeding difficulties Narrow mouth Malabsorption Poor speech Cirrhosis Triangular face Brain atrophy Blue sclerae Neutropenia Glucose intolerance Exertional dyspnea Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Skeletal muscle atrophy Fatigue Kyphosis Recurrent infections Recurrent respiratory infections Jaundice Limb muscle weakness Unsteady gait Aciduria Reduced visual acuity Intention tremor Pelvic girdle muscle weakness Pes planus Stroke Muscular dystrophy Chest pain Waddling gait Intellectual disability, profound Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Calf muscle hypertrophy Rimmed vacuoles Stroke-like episode Muscle fiber splitting Type I transferrin isoform profile Leg muscle stiffness Muscle fiber necrosis Hypoglycosylation of alpha-dystroglycan Abnormal isoelectric focusing of serum transferrin Elevated creatine kinase after exercise Abnormality of skeletal muscle fiber size Decreased sialylation of O-linked protein glycosylation Diabetes mellitus Abnormal cerebellum morphology Progressive spastic paraplegia Distal lower limb muscle weakness Supraventricular arrhythmia Lower limb pain Oligohydramnios Respiratory insufficiency due to muscle weakness Infantile muscular hypotonia Decreased urine output Abnormality of the periventricular white matter Urinary bladder sphincter dysfunction Slow saccadic eye movements Hypomimic face Corpus callosum atrophy Neurogenic bladder CNS demyelination Motor polyneuropathy Psychomotor deterioration Progressive spastic paraparesis Abnormal upper motor neuron morphology Erectile abnormalities Abnormality of central motor function Urinary urgency Decreased/absent ankle reflexes Lafora bodies Cervical spinal cord atrophy Respiratory insufficiency Hypoglycemia Myalgia Feeding difficulties in infancy Abnormality of the liver Small for gestational age Lethargy Cholestasis Hydrops fetalis Orthostatic hypotension Impotence Decreased nerve conduction velocity Hypoplasia of the corpus callosum Cholelithiasis Macrocytic anemia Abnormality of immune system physiology Diaphragmatic paralysis Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Cerebellar atrophy Amyotrophic lateral sclerosis Abnormality of metabolism/homeostasis Distal sensory impairment Polyneuropathy Urinary incontinence Limitation of joint mobility Sensory impairment Hypotension Bradykinesia Tetraparesis Hemiparesis Decreased liver function Foot dorsiflexor weakness EMG abnormality Stress/infection-induced lactic acidosis



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