Congestive heart failure, and Unsteady gait

Diseases related with Congestive heart failure and Unsteady gait

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

Top matches:

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

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D Is also known as duchenne-like autosomal recessive muscular dystrophy, type 2|muscular dystrophy, limb-girdle, type 2d|dmda2|alpha-sarcoglycanopathy|lgmd2d|adhalinopathy, primary|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Other less relevant matches:

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

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Medium 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

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Top 5 symptoms//phenotypes associated to Congestive heart failure and Unsteady gait

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Visual impairment Intellectual disability Flexion contracture Arrhythmia Scoliosis Dysarthria Difficulty walking Myopathy Hyperlordosis Motor delay Muscular hypotonia Global developmental delay Retinopathy Involuntary movements Skeletal muscle atrophy Hearing impairment Limb muscle weakness Hypertrophic cardiomyopathy Kyphosis Dystonia Respiratory distress Tremor Talipes equinovarus Seizures Falls Areflexia Elevated serum creatine phosphokinase Dilated cardiomyopathy Babinski sign Muscular dystrophy

Rare Symptoms - Less than 30% cases

Disproportionate tall stature Intention tremor Oligohydramnios Optic disc pallor Dyskinesia Hemolytic anemia Cachexia Abnormal pyramidal sign Pallor Abnormality of the foot Decreased fetal movement Joint hypermobility Respiratory insufficiency due to muscle weakness Talipes Fatigue Hyperreflexia Peripheral neuropathy Joint hyperflexibility Anemia Spasticity Low-set ears Slurred speech Insulin resistance Chronic hemolytic anemia Retinal degeneration Kyphoscoliosis Reduced visual acuity Gait ataxia Cerebral cortical atrophy Failure to thrive Feeding difficulties Depressivity Nystagmus Pigmentary retinopathy Vertigo Malabsorption Pes planus Growth delay Proteinuria Diabetes mellitus Renal insufficiency Optic atrophy Hypertension Abnormality of movement Lower limb muscle weakness Chorea Ptosis Pancytopenia Cataract Limb-girdle muscular dystrophy Difficulty climbing stairs Inability to walk Positive Romberg sign Broad-based gait Calf muscle pseudohypertrophy Peripheral demyelination Long face Limb-girdle muscle weakness Thoracic scoliosis Achilles tendon contracture Abnormal cerebellum morphology Hyporeflexia Dysmetria Calf muscle hypertrophy Tip-toe gait Neuronal loss in central nervous system Left ventricular failure Gowers sign Dysphagia EMG: myopathic abnormalities Scapular winging Frequent falls Waddling gait Proximal muscle weakness Soft skin Generalized amyotrophy Aortic root aneurysm Keratoconus Atrophic scars Slender finger Heart murmur Abnormality of the hip bone Atypical scarring of skin Lens luxation Aortic dissection Premature rupture of membranes Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Congenital muscular dystrophy Moderate myopia Wrist drop Palmoplantar cutis laxa Generalized joint laxity Arterial dissection Dural ectasia Keloids Thoracic kyphoscoliosis Subcutaneous hemorrhage Bladder diverticulum Spinal rigidity Aortic regurgitation Aortic aneurysm Joint laxity Single transverse palmar crease Polyneuropathy Retinal detachment Bruising susceptibility Neck muscle weakness Arachnodactyly Dolichocephaly Pectus carinatum Neonatal hypotonia Generalized muscle weakness Osteopenia Glaucoma Osteoporosis Prominent forehead Inguinal hernia Pectus excavatum Hernia Abnormality of metabolism/homeostasis Dilatation Microcornea Abnormal bleeding Intracranial hemorrhage Spina bifida Hyperextensible skin Corneal dystrophy Progressive congenital scoliosis Torticollis Spina bifida occulta Joint dislocation Hyperbilirubinemia Increased body weight Recurrent pneumonia Joint contracture of the hand Sepsis Tall stature Dental crowding Thin skin Blue sclerae High myopia Mitral valve prolapse Overgrowth Esotropia Gastrointestinal hemorrhage Spontaneous rupture of the globe Hemolytic-uremic syndrome Microcephaly Apathy Thyroglossal cyst Hypertonia Myoclonus Anxiety Muscular hypotonia of the trunk Choreoathetosis Thromboembolism Ectopia lentis Diffuse hepatic steatosis Hemiplegia Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Pulmonary arterial hypertension Psychosis Cystathioninemia Megaloblastic anemia Memory impairment Decreased methionine synthase activity Methylmalonic acidemia Abnormality of macular pigmentation Delirium Urogenital fistula Decreased methylcobalamin Hyperhomocystinemia Decreased adenosylcobalamin Vitamin B12 deficiency Decreased methylmalonyl-CoA mutase activity Cystathioninuria Right ventricular failure Hypomethioninemia Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Abnormality of extrapyramidal motor function Aciduria Poor head control Weight loss Hip dislocation Feeding difficulties in infancy Mental deterioration Arthritis Macrotia High forehead Acidosis Dementia Congenital cataract Thrombocytopenia Intellectual disability, severe Myocardial infarction Hydrocephalus Abnormal facial shape EMG abnormality Atrophy of the spinal cord Severe muscular hypotonia Lethargy Smooth philtrum Delayed gross motor development Neutropenia Urinary incontinence Edema Resting tremor Limb hypertonia Myokymia Orofacial dyskinesia Paroxysmal dyskinesia Metabolic acidosis Confusion Hepatic steatosis Hematuria Facial myokymia Narrow chest Nephropathy Abnormality of skin pigmentation Limitation of joint mobility Paresthesia Blindness Visual field defect Myopia Diaphragmatic paralysis Central nervous system degeneration Congenital hemolytic anemia Abnormal posturing Normochromic anemia Nonspherocytic hemolytic anemia Cholecystitis Normocytic anemia Abnormality of immune system physiology Constipation Macrocytic anemia Cholelithiasis Decreased nerve conduction velocity Progressive muscle weakness Respiratory tract infection Jaundice Respiratory failure Recurrent respiratory infections Sensorineural hearing impairment Myalgia Cerebral atrophy Vestibular dysfunction Left bundle branch block Abnormality of lipid metabolism Retinal atrophy Glomerulopathy Progressive sensorineural hearing impairment Abnormal retinal morphology Macular dystrophy Bundle branch block Abnormality of the kidney Hyperglycemia Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Ragged-red muscle fibers External ophthalmoplegia Type II diabetes mellitus Bilateral sensorineural hearing impairment Ophthalmoplegia Recurrent infections Splenomegaly Pain Exercise-induced myalgia Facial palsy Pneumonia Absent muscle fiber alpha sarcoglycan Reduced muscle fiber alpha dystroglycan Limited shoulder movement Limb-girdle muscle atrophy Abnormal myocardium morphology Myoglobinuria Lumbar hyperlordosis Rhabdomyolysis Toe walking Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Sensory ataxia Gliosis Distal sensory impairment Macroglossia Skeletal muscle hypertrophy Reduced muscle fiber alpha sarcoglycan Right ventricular dilatation Absent muscle fiber gamma sarcoglycan EMG: myotonic discharges EMG: positive sharp waves EMG: myotonic runs Abnormal macrophage morphology Left ventricular systolic dysfunction Increased endomysial connective tissue Muscle fiber necrosis Increased variability in muscle fiber diameter Muscle fiber atrophy Neck flexor weakness Restrictive deficit on pulmonary function testing Upper limb muscle weakness Right ventricular hypertrophy Progressive proximal muscle weakness Difficulty running Restrictive ventilatory defect Abnormal chorioretinal morphology Cerebellar atrophy Epicanthus Lower limb amyotrophy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Abnormal echocardiogram Cerebellar cortical atrophy Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Concentric hypertrophic cardiomyopathy Upper limb amyotrophy Myocardial fibrosis Palmar hyperhidrosis Depressed nasal bridge Cryptorchidism Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Temporal optic disc pallor Incomprehensible speech Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Areflexia of lower limbs Increased reactive oxygen species production Visual loss Sensory impairment Limb ataxia Lower limb spasticity Left ventricular hypertrophy Clumsiness Palpitations Atrial fibrillation Ventricular hypertrophy Chest pain Truncal ataxia Progressive cerebellar ataxia Neurodegeneration Sensory neuropathy Tachycardia Peripheral axonal neuropathy Abnormality of eye movement Hyperactivity Pes cavus Spastic gait Muscle stiffness Ketoacidosis Glucose intolerance Urinary bladder sphincter dysfunction Ketosis Heart block Abnormality of visual evoked potentials Abnormal EKG Optic neuropathy Hyperactive deep tendon reflexes Decreased motor nerve conduction velocity Paraparesis Sensory axonal neuropathy Hammertoe Impaired vibratory sensation Dysdiadochokinesis Incoordination Ventricular arrhythmia Reduced tendon reflexes Spastic paraparesis Axial muscle weakness


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