Hyperreflexia, and Congestive heart failure

Diseases related with Hyperreflexia and Congestive heart failure

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

Top matches:

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

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

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

Other less relevant matches:

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

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

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

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

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 Hyperreflexia and Congestive heart failure

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Myopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy Seizures Feeding difficulties Hypertonia Cardiomyopathy Ataxia Leukodystrophy Cerebral atrophy Dysphagia Intellectual disability Increased serum lactate Babinski sign Neonatal hypotonia Fatigue Encephalopathy Muscular hypotonia Respiratory distress Vomiting Acidosis Hyporeflexia Flexion contracture Ophthalmoparesis Spasticity Respiratory failure Dystonia Respiratory tract infection Tremor Nystagmus Dysarthria

Rare Symptoms - Less than 30% cases

Hyperammonemia Increased intramyocellular lipid droplets Diaphragmatic paralysis Gait disturbance Intellectual disability, severe Rhabdomyolysis Peripheral neuropathy Hypertension Proximal muscle weakness Dyskinesia EMG abnormality Metabolic acidosis Lactic acidosis Respiratory insufficiency due to muscle weakness Exercise intolerance Ragged-red muscle fibers Muscular hypotonia of the trunk Ketonuria Hypoglycemia Generalized muscle weakness Increased serum pyruvate Myoclonus Ketoacidosis Paralysis Mildly elevated creatine phosphokinase Limb muscle weakness Visual impairment Optic atrophy Absent speech Recurrent respiratory infections Areflexia Hypoventilation Clonus Orofacial dyskinesia Blindness Tetraplegia Skeletal muscle atrophy Macrocephaly Necrotizing encephalopathy Involuntary movements Mental deterioration Ophthalmoplegia Myotonia Waddling gait Joint contracture of the hand Frequent falls Foot dorsiflexor weakness Decreased fetal movement Knee flexion contracture Infantile muscular hypotonia EMG: myopathic abnormalities Akinesia Congenital contracture Narrow face Mask-like facies Feeding difficulties in infancy Cholelithiasis Pectus excavatum Abnormal posturing Chronic hemolytic anemia Normochromic anemia Congenital hemolytic anemia Nonspherocytic hemolytic anemia Cholecystitis Central nervous system degeneration Scoliosis High palate Abnormality of the skeletal system Respiratory insufficiency Edema Pes cavus Macrocytic anemia Polyhydramnios Retrognathia Rigidity Normocytic anemia Facial palsy Apnea Abnormality of immune system physiology Hyperlordosis Cough Arthrogryposis multiplex congenita Genu valgum Falls Pulmonary hypoplasia Myopathic facies Hepatic steatosis Bulbar palsy Mitral regurgitation Microcephaly Growth delay Ptosis Cognitive impairment Diarrhea Arrhythmia Dementia Developmental regression Retinopathy Generalized myoclonic seizures Pigmentary retinopathy Spastic tetraplegia Congenital hip dislocation Acute hyperammonemia External ophthalmoplegia Leukoencephalopathy Easy fatigability Oral-pharyngeal dysphagia Ketosis Preeclampsia Left ventricular noncompaction Paraganglioma Hemolytic-uremic syndrome Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Abnormal mitochondria in muscle tissue Left ventricular systolic dysfunction Short stature Propionyl-CoA carboxylase deficiency Spinal rigidity Dilatation Thin ribs EMG: neuropathic changes Facial diplegia Fetal akinesia sequence Nemaline bodies Type 1 muscle fiber predominance Breech presentation Slender build Neck flexor weakness Fetal distress Percussion myotonia Late-onset distal muscle weakness Ventriculomegaly Depressivity Encephalomalacia Alopecia Elevated hepatic transaminase Lethargy Coma Cyanosis Dehydration Progressive neurologic deterioration Opisthotonus Organic aciduria Seborrheic dermatitis Decreased plasma carnitine Hyperglycinuria Neutrophilia Decreased nerve conduction velocity Abnormality of muscle fibers Progressive muscle weakness Lower limb pain Sensorineural hearing impairment Abnormality of cardiovascular system morphology Dyspnea Myalgia Chest pain Febrile seizures Slurred speech Multiple lipomas Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Mild global developmental delay Increased adipose tissue Hemeralopia Hepatomegaly Renal insufficiency Pneumonia Tachypnea CNS hypomyelination Athetosis Renal tubular acidosis Periventricular leukomalacia Dysgraphia Hyperalaninemia Cystinuria Abnormal fundus morphology Restless legs Increased head circumference Abnormality of the cerebral white matter Difficulty walking Anxiety Abnormality of movement Chorea Choreoathetosis Delayed gross motor development Resting tremor Limb hypertonia Myokymia Paroxysmal dyskinesia Facial myokymia Delayed myelination Dysdiadochokinesis Ventricular hypertrophy Left ventricular hypertrophy Abnormality of the periventricular white matter Cerebellar atrophy Visual loss Reduced visual acuity Photophobia Dysmetria Sensory impairment Psychosis Macular degeneration Cone/cone-rod dystrophy Proximal renal tubular acidosis Periventricular cysts Intention tremor Thyrotoxicosis with toxic multinodular goitre Periodic hypokalemic paresis Exercise-induced muscle fatigue Late-onset proximal muscle weakness Respiratory paralysis Episodic flaccid weakness Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Episodic hypokalemia Decreased urinary potassium Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Anemia Impaired myocardial contractility Splenomegaly Kyphosis Recurrent infections Jaundice Pallor Abnormal pyramidal sign Unsteady gait Hemolytic anemia Neuronal loss in central nervous system Optic disc pallor Oligohydramnios Shortened PR interval Postprandial hyperglycemia Chronic metabolic acidosis Muscle stiffness Congenital lactic acidosis Neuronal loss in the cerebral cortex Obesity Constipation Hyperhidrosis Weight loss Proptosis Lower limb muscle weakness Tachycardia Muscle cramps Palpitations Goiter Periodic paralysis Hypokalemia Ventricular fibrillation Hyperkalemia Prolonged QT interval Hyperthyroidism Thyroiditis Hashimoto thyroiditis Hypomagnesemia Heat intolerance Graves disease Abnormality of peripheral nerve conduction Urinary retention Stress/infection-induced lactic acidosis


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