Cardiomyopathy, and Spastic paraplegia

Diseases related with Cardiomyopathy and Spastic paraplegia

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


Top matches:

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

Medium 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

Mendelian

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

Learn more

Other less relevant matches:

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 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


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

Low match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low 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

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Spastic paraplegia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Spastic paraparesis Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases


Paraparesis Hyperreflexia Peripheral neuropathy Seizures Hearing impairment Dementia Abnormality of movement Babinski sign Visual impairment Dystonia Microcephaly Peripheral axonal neuropathy Muscle weakness Difficulty walking Cognitive impairment Global developmental delay Gait disturbance Gait ataxia Hypertrophic cardiomyopathy Paraplegia Hypertonia Progressive cerebellar ataxia Cerebellar atrophy Failure to thrive Acidosis Ptosis Arrhythmia Congestive heart failure Spastic tetraplegia Dilated cardiomyopathy Leukoencephalopathy Polyneuropathy Tetraplegia Hemiparesis Abnormality of the cerebral white matter Abnormality of extrapyramidal motor function Abnormal pyramidal sign Neurodegeneration Urinary incontinence Short stature Increased serum lactate Lower limb spasticity

Rare Symptoms - Less than 30% cases


Orthostatic hypotension Urinary bladder sphincter dysfunction Unsteady gait Hypomimic face Myopathy Psychomotor deterioration Cervical spinal cord atrophy Growth delay Encephalopathy Hyperactivity Visual loss Motor delay Hepatomegaly Cataract Facial palsy Coma Cachexia Ketosis Dysphagia Tachycardia Retinopathy Depressivity Poor fine motor coordination Dysdiadochokinesis Truncal ataxia Dysmetria Cerebral hemorrhage Peripheral demyelination Limb ataxia Neuronal loss in central nervous system Migraine Gliosis Nephropathy Reduced tendon reflexes Areflexia Headache Diarrhea Vomiting Tremor Pain Impotence Lower limb muscle weakness Progressive spastic paraplegia Ophthalmoplegia Sensory impairment Paresthesia Cerebral cortical atrophy Emotional lability Leukodystrophy Pigmentary retinopathy Intellectual disability Reduced visual acuity Bradykinesia Diabetes mellitus Strabismus 3-Methylglutaconic aciduria Choreoathetosis Aciduria Chorea Neutropenia Hypotension Abnormal cerebellum morphology Decreased liver function Anterior segment developmental abnormality External ophthalmoplegia Intracranial hemorrhage Rhabdomyolysis Oral-pharyngeal dysphagia Easy fatigability Ragged-red muscle fibers Exercise intolerance Ketonuria Hemiplegia Blurred vision Congenital glaucoma Scotoma Congenital hip dislocation Mitral regurgitation Generalized myoclonic seizures Preeclampsia Dysphonia Lactic acidosis Abnormal mitochondria in muscle tissue Fatigue Microcornea Scoliosis Renal cyst Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Decreased activity of mitochondrial complex II Left ventricular noncompaction Progressive leukoencephalopathy Increased intramyocellular lipid droplets Muscle cramps Amblyopia Hemolytic-uremic syndrome Paraganglioma Generalized muscle weakness Respiratory tract infection Corneal neovascularization Retinal hemorrhage Perivascular spaces Polycoria Rieger anomaly Arterial tortuosity Hypoplasia of the iris Neuritis Migraine with aura Optic neuritis Increased intraocular pressure Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Ectopia pupillae Supraventricular tachycardia Diffuse leukoencephalopathy Retinal arteriolar tortuosity Developmental regression Posterior embryotoxon Proximal muscle weakness Neonatal hypotonia Respiratory failure Myoclonus Infantile spasms Absent speech Blindness Peripapillary atrophy Respiratory distress Flexion contracture Generalized hypotonia Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Talipes equinovarus EMG abnormality Kyphosis Abnormal echocardiogram Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy T-wave inversion Decreased sensory nerve conduction velocity Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Reduced systolic function Diabetic ketoacidosis Increased reactive oxygen species production Decreased pyruvate carboxylase activity Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Mitochondrial malic enzyme reduced Concentric hypertrophic cardiomyopathy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Myocardial fibrosis Ketoacidosis Pes cavus Inability to walk Palpitations Atrial fibrillation Intention tremor Ventricular hypertrophy Optic disc pallor Chest pain Sensory neuropathy Falls Involuntary movements Vertigo Abnormality of eye movement Hypopigmentation of the skin Limb muscle weakness Pallor Pes planus Kyphoscoliosis Clumsiness Left ventricular hypertrophy Heart block Decreased motor nerve conduction velocity Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Sensory axonal neuropathy Spastic gait Hammertoe Impaired vibratory sensation Incoordination Slurred speech Ventricular arrhythmia Muscle stiffness Insulin resistance Abnormality of the foot Glaucoma Retinal detachment Hyperchloremic acidosis Apnea Hydrocephalus Fever Hypertrichosis Sensorineural hearing impairment Progressive forgetfulness Testicular dysgenesis Renal insufficiency Nonprogressive cerebellar ataxia Abnormality of the basal ganglia Skeletal myopathy Short attention span Athetosis Spastic tetraparesis Increased CSF lactate Intellectual disability, severe Ventricular septal defect Memory impairment Bilateral sensorineural hearing impairment Rheumatoid arthritis Atrioventricular block Abnormal autonomic nervous system physiology Vasculitis Hallucinations Cardiomegaly Horizontal nystagmus Anemia Restlessness Malabsorption Arthritis Weight loss Constipation Hyporeflexia Muscular hypotonia Progressive visual loss Febrile seizures Aphasia CNS demyelination Decreased urine output Erectile abnormalities Abnormal upper motor neuron morphology Progressive spastic paraparesis Tetraparesis Motor polyneuropathy Neurogenic bladder Decreased/absent ankle reflexes Corpus callosum atrophy Progressive muscle weakness Slow saccadic eye movements Abnormality of the periventricular white matter Skin ulcer Urinary urgency Foot dorsiflexor weakness Abnormality of central motor function Lafora bodies Decreased activity of mitochondrial respiratory chain Hypoglycemia Decreased activity of the pyruvate dehydrogenase complex Metabolic acidosis Focal T2 hyperintense basal ganglia lesion Confusion Ventriculomegaly Hypoplasia of the corpus callosum Severe global developmental delay Gastroesophageal reflux Limitation of joint mobility Behavioral abnormality Abnormality of metabolism/homeostasis Recurrent infections Cerebral atrophy Mental deterioration Distal sensory impairment Delayed speech and language development Malnutrition Axonal degeneration Hematuria Hepatic encephalopathy Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hyperglycinemia Decreased serum ferritin Abnormal myelination Supraventricular arrhythmia Prolonged prothrombin time Astrocytosis Esophageal varix Echolalia Action tremor Pica Increased total iron binding capacity Limb dystonia Amyotrophic lateral sclerosis Astigmatism Congenital cataract Hypermetropia Corneal opacity Stroke Impaired vibration sensation in the lower limbs Abnormality of the nervous system Elevated serum creatine phosphokinase Copper accumulation in liver Distal lower limb muscle weakness Dilatation Microphthalmia Intellectual disability, mild Myopia Abnormality of divalent inorganic cation homeostasis Abnormal transferrin saturation Generalized dystonia Polycythemia Decreased number of peripheral myelinated nerve fibers Abnormal renal physiology Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Urinary retention Sensory ataxia Myelopathy Splenomegaly Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Hypertension Pneumonia Axonal loss Sensorimotor neuropathy Abnormality of coagulation Steppage gait Toe walking Portal hypertension Lower limb pain Hyperbilirubinemia Leg muscle stiffness Gastrointestinal hemorrhage Jaundice Parkinsonism Postural instability Hepatic steatosis Cirrhosis Abnormality of the liver Elevated hepatic transaminase Rigidity Atrophic superior cerebellar peduncle



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Hirsutism, related diseases and genetic alterations Wide nasal bridge and Prominent nose, related diseases and genetic alterations Tremor and Spinal muscular atrophy, related diseases and genetic alterations Obesity and Renal hypoplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more