Congestive heart failure, and Amyotrophic lateral sclerosis

Diseases related with Congestive heart failure and Amyotrophic lateral sclerosis

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Amyotrophic lateral sclerosis that can help you solving undiagnosed cases.


Top matches:

High match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Low match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1


ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

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Other less relevant matches:

Low match PERRY SYNDROME


Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.

PERRY SYNDROME Is also known as parkinsonism with alveolar hypoventilation and mental depression

Related symptoms:

  • Dysarthria
  • Tremor
  • Respiratory insufficiency
  • Behavioral abnormality
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PERRY SYNDROME

Low match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Low match CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME


Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

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

Low match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Low match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2|scan 2|scar1|ataxia-ocular apraxia 2|aoa2|ataxia-oculomotor apraxia type 2

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

Top 5 symptoms//phenotypes associated to Congestive heart failure and Amyotrophic lateral sclerosis

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Babinski sign Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Amyotrophic lateral sclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Neuronal loss in central nervous system Muscle weakness Tremor Cardiomyopathy Dementia Cerebral atrophy Dystonia Global developmental delay Dysphagia Cognitive impairment Fatigue Myopathy Abnormality of extrapyramidal motor function Depressivity Limb muscle weakness Distal amyotrophy Spasticity Anemia Frontotemporal dementia Respiratory distress Neurodegeneration Respiratory insufficiency Rigidity Areflexia Chorea Respiratory insufficiency due to muscle weakness Hyporeflexia Respiratory failure Distal sensory impairment Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Behavioral abnormality Dysmetria Abnormal cerebellum morphology Pes cavus Peripheral demyelination Parkinsonism Gliosis Urinary bladder sphincter dysfunction Generalized amyotrophy Mental deterioration Gait imbalance Cone/cone-rod dystrophy Seizures Slurred speech Peripheral neuropathy Involuntary movements Hypertrophic cardiomyopathy Gait ataxia Abnormal pyramidal sign Psychosis Nystagmus Sensory impairment Back pain Reduced visual acuity Visual loss Cerebellar atrophy Hyperreflexia Motor delay Sensory axonal neuropathy Generalized hypotonia Semantic dementia Personality changes Intellectual disability EMG: myopathic abnormalities Cerebral cortical atrophy Progressive muscle weakness Apathy Insomnia Distal muscle weakness Proximal muscle weakness Decreased nerve conduction velocity Macrocytic anemia Impaired proprioception Intention tremor Impaired smooth pursuit Cholelithiasis Oligohydramnios Progressive gait ataxia Head tremor Peripheral axonal neuropathy Abnormality of immune system physiology Cerebellar vermis atrophy Dyskinesia Diaphragmatic paralysis Gaze-evoked nystagmus Increased antibody level in blood Normocytic anemia Cholecystitis Decreased motor nerve conduction velocity Postural tremor Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Optic disc pallor Unsteady gait Hemolytic anemia Schistocytosis Chronic axonal neuropathy Immunodeficiency Rod-cone dystrophy Lactic acidosis Decreased antibody level in blood Lymphopenia Nephrocalcinosis Aminoaciduria Brittle hair Microcytic anemia Anemia of inadequate production Hypochromic microcytic anemia Sideroblastic anemia Muscular hypotonia Decreased number of large peripheral myelinated nerve fibers Diffuse cerebellar atrophy Impaired distal vibration sensation Splenomegaly Kyphosis Recurrent infections Recurrent respiratory infections Jaundice Respiratory tract infection Elevated alpha-fetoprotein Pallor Pontocerebellar atrophy Conjunctival telangiectasia Saccadic smooth pursuit Central nervous system degeneration Hypertension Pain Muscle flaccidity Ventricular arrhythmia Abnormal electroretinogram Neurodevelopmental delay Abnormal retinal morphology Hypokinesia Cardiorespiratory arrest Abnormality of the gastrointestinal tract Reduced ejection fraction Wolff-Parkinson-White syndrome Myocardial fibrosis Myofibrillar myopathy Skeletal myopathy Autophagic vacuoles Retinal pigment epithelial mottling Hyperlipidemia Exercise-induced muscle cramps Impaired myocardial contractility Ventricular preexcitation Myocardial necrosis Left ventricular systolic dysfunction Progressive cerebellar ataxia Macular hypopigmentation Suicidal ideation Increased cerebral lipofuscin Polyneuropathy Glycogen accumulation in muscle fiber lysosomes Scoliosis Strabismus Abnormality of the foot Ventricular tachycardia Sensorineural hearing impairment Visual impairment Dilated cardiomyopathy Sensory neuropathy Hepatomegaly Premature ovarian insufficiency Myopia Arrhythmia Hypoalbuminemia Hyperactivity Abnormality of the eye Abnormality of the liver Hypercholesterolemia Scarring Oculomotor apraxia Truncal ataxia Retinopathy Chest pain Cardiac arrest Progressive visual loss Pigmentary retinopathy Sensorimotor neuropathy Diplopia Limb ataxia Cardiomegaly Telangiectasia Choreoathetosis Apraxia Ventricular hypertrophy Atrial fibrillation Palpitations Left ventricular hypertrophy Decreased liver function Exercise intolerance Abnormal fundus morphology Growth delay Shoulder girdle muscle weakness Language impairment Spinal muscular atrophy Increased variability in muscle fiber diameter Alzheimer disease Aphasia Dysphasia Difficulty climbing stairs Pathologic fracture Abnormality of the vertebral column Rimmed vacuoles Progressive proximal muscle weakness EMG: neuropathic changes Motor axonal neuropathy Upper motor neuron dysfunction Increased susceptibility to fractures Pelvic girdle muscle weakness Hip pain Shoulder girdle muscle atrophy EMG: chronic denervation signs Abnormality of calvarial morphology Dyscalculia Fatty replacement of skeletal muscle Motor neuron atrophy Calvarial hyperostosis Cranial nerve compression Pelvic girdle muscle atrophy Frontal cortical atrophy Elevated alkaline phosphatase of bone origin Scapuloperoneal weakness Limb-girdle muscular dystrophy Elevated alkaline phosphatase Pelvic girdle amyotrophy Short stature Edema Aggressive behavior Stereotypy Emotional lability Agitation Global brain atrophy Abnormal lower motor neuron morphology Supranuclear gaze palsy Pulmonary edema Disinhibition Primitive reflex Perseveration Bulimia Cataract Abnormality of pelvic girdle bone morphology Ventriculomegaly Dilatation Facial palsy Hyperlordosis Muscular dystrophy Hepatic steatosis Brain atrophy Waddling gait Lumbar hyperlordosis Tetraparesis Fasciculations Osteolysis Scapular winging Mutism Abnormality of long bone morphology Temporal cortical atrophy Hearing impairment Memory impairment Ophthalmoparesis Orofacial dyskinesia Restless legs Hemeralopia Delayed speech and language development Hypertonia Diabetes mellitus Hypothyroidism Difficulty walking Poor speech Confusion Retinal degeneration Cirrhosis Type I diabetes mellitus Macular degeneration Torticollis Cerebral palsy Hyperkinesis Polyuria Muscle fibrillation Increased serum ferritin Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Dysdiadochokinesis Ophthalmoplegia Ubiquitin-positive cerebral inclusion bodies Hypotension Abnormal motor neuron morphology Weakness of muscles of respiration Falls Sensory ataxia Positive Romberg sign Distal sensory loss of all modalities Distal sensory impairment of all modalities Gait instability, worse in the dark Abnormality of metabolism/homeostasis Weight loss Abnormality of eye movement Sleep disturbance Postural instability Bradykinesia Neonatal hypotonia Mask-like facies Resting tremor Hypoventilation Lewy bodies Respiratory arrest Central hypoventilation Weak voice Vertical supranuclear gaze palsy Inappropriate behavior Short stepped shuffling gait Failure to thrive Feeding difficulties Blindness Photophobia Impaired distal tactile sensation



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