Cardiomyopathy, and Unsteady gait

Diseases related with Cardiomyopathy and Unsteady gait

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


Top matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D


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

Medium match FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA


Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Medium match EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1


Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


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

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 MATERNALLY-INHERITED DIABETES AND DEAFNESS


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 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 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

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A


MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X


Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X Is also known as autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|lgmd2x|muscular dystrophy, limb-girdle, type 2x

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Arrhythmia
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Unsteady gait

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Unsteady gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Myopathy Dystonia Skeletal muscle atrophy Ataxia Hearing impairment Intellectual disability Dilated cardiomyopathy Proximal muscle weakness Respiratory insufficiency Elevated serum creatine phosphokinase Muscular dystrophy Global developmental delay Generalized hypotonia Hyperlordosis Limb muscle weakness Muscular hypotonia Waddling gait Cerebral atrophy Ptosis Spasticity Inability to walk Respiratory insufficiency due to muscle weakness Kyphosis Flexion contracture Acidosis Gait disturbance Scapular winging EMG: myopathic abnormalities Limb-girdle muscular dystrophy Dysarthria Optic atrophy Gowers sign Achilles tendon contracture

Rare Symptoms - Less than 30% cases


Involuntary movements Progressive proximal muscle weakness Peripheral neuropathy Motor delay Progressive cerebellar ataxia Neurodegeneration Lumbar hyperlordosis Heart block Atrioventricular block Reduced tendon reflexes Abnormality of movement Fatigue Pes cavus Hyperreflexia Respiratory distress Vertigo Spastic paraparesis Optic disc pallor Hyperactivity Cataract Visual impairment Diabetes mellitus Gait ataxia Pallor Intention tremor Paraparesis Babinski sign Visual loss Limb ataxia Hyporeflexia Areflexia Recurrent infections Abnormal pyramidal sign Nystagmus Respiratory failure Difficulty climbing stairs Hypoglycemia Failure to thrive Severe global developmental delay Growth delay Lactic acidosis Calf muscle pseudohypertrophy Tip-toe gait Encephalopathy Limb-girdle muscle weakness Metabolic acidosis Aciduria Thoracic scoliosis Left ventricular failure Obesity Difficulty walking Falls Calf muscle hypertrophy Frequent falls Toe walking Organic aciduria Dysphagia Talipes equinovarus Cerebellar atrophy Depressivity Cerebral cortical atrophy Reduced visual acuity Kyphoscoliosis Pes planus Abnormality of the foot Atrophic superior cerebellar peduncle Abnormality of mitochondrial metabolism Abnormality of eye movement Progressive forgetfulness Lower limb muscle weakness Dysmetria Peripheral axonal neuropathy Dementia Impaired visually enhanced vestibulo-ocular reflex Tachycardia Sensory neuropathy Abnormal cerebellum morphology Structural foot deformity Pain Tetraplegia Cerebral white matter atrophy Spastic tetraparesis Urinary incontinence Febrile seizures Memory impairment Progressive visual loss Spastic tetraplegia Choreoathetosis Loss of ability to walk Neutropenia Confusion Sinus bradycardia Paraplegia Leukoencephalopathy Coma Athetosis Short attention span Centrally nucleated skeletal muscle fibers Skeletal myopathy Abnormality of the basal ganglia Syncope 3-Methylglutaconic aciduria Abnormality of the cerebral white matter Spastic paraplegia Nonprogressive cerebellar ataxia Testicular dysgenesis Gastroesophageal reflux Hyperchloremic acidosis Concentric hypertrophic cardiomyopathy Abolished vibration sense Abnormality of the dentate nucleus Hepatomegaly Myocardial fibrosis Areflexia of lower limbs Hyposmia Spinocerebellar tract degeneration Gait imbalance Impaired proprioception Asymmetric septal hypertrophy Subvalvular aortic stenosis T-wave inversion Poor fine motor coordination Abnormal echocardiogram Lower limb amyotrophy Positive Romberg sign Decreased pyruvate carboxylase activity Urinary bladder sphincter dysfunction Muscular subvalvular aortic stenosis Upper limb amyotrophy Incomprehensible speech Abnormality of the autonomic nervous system Diabetic ketoacidosis Hemifacial hypertrophy Decreased amplitude of sensory action potentials Decreased sensory nerve conduction velocity Mitochondrial malic enzyme reduced Reduced systolic function Hand muscle atrophy Sinus tachycardia Cervical spinal cord atrophy Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Ketoacidosis Ketosis Chest pain Insulin resistance Cerebellar cortical atrophy Chorea Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Sensory impairment Peripheral demyelination Ventricular hypertrophy Atrial fibrillation Palpitations Clumsiness Left ventricular hypertrophy Lower limb spasticity Spastic gait Truncal ataxia Abnormality of visual evoked potentials Sensory axonal neuropathy Abnormal EKG Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Hammertoe Muscle stiffness Impaired vibratory sensation Dysdiadochokinesis Cachexia Incoordination Slurred speech Ventricular arrhythmia Increased reactive oxygen species production Chronic hemolytic anemia Delayed speech and language development Ventricular escape rhythm Lipodystrophy Myotonia Spinal rigidity Rimmed vacuoles Sprengel anomaly Vocal cord paralysis Abnormality of the neck Proximal muscle weakness in lower limbs Supraventricular arrhythmia Atrial arrhythmia Increased LDL cholesterol concentration Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Proximal upper limb amyotrophy Elbow flexion contracture Type 1 muscle fiber atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Pneumonia Facial palsy Long face Macroglossia Broad-based gait Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Restrictive ventilatory defect Difficulty running Right ventricular hypertrophy Upper limb muscle weakness Back pain Hypertriglyceridemia Neck flexor weakness Abnormality of the skin Rhabdomyolysis Myoglobinuria Exercise-induced myalgia Abnormal myocardium morphology Limb-girdle muscle atrophy Limited shoulder movement Reduced muscle fiber alpha dystroglycan Absent muscle fiber alpha sarcoglycan Feeding difficulties Intellectual disability, severe Hyperhidrosis Abnormality of the nervous system Muscular hypotonia of the trunk Mental deterioration Progressive neurologic deterioration Sudden cardiac death Shock Hypophosphatemia Muscle fibrillation Severe lactic acidosis Methylmalonic aciduria Necrotizing encephalopathy Poor motor coordination Episodic metabolic acidosis Renal aminoaciduria Intermittent hyperpnea at rest Pectus excavatum Paralysis Joint stiffness Ichthyosis Restrictive deficit on pulmonary function testing Muscle fiber atrophy Cognitive impairment Ragged-red muscle fibers Renal insufficiency Constipation Myalgia Proteinuria Abnormality of the kidney Retinopathy Ophthalmoplegia Malabsorption Retinal degeneration Pigmentary retinopathy Bilateral sensorineural hearing impairment Type II diabetes mellitus Pancytopenia External ophthalmoplegia Constriction of peripheral visual field Sensorineural hearing impairment Aplasia/Hypoplasia of the cerebellum Hyperglycemia Bundle branch block Vestibular dysfunction Macular dystrophy Abnormal retinal morphology Progressive sensorineural hearing impairment Glomerulopathy Retinal atrophy Abnormality of lipid metabolism Left bundle branch block Abnormal chorioretinal morphology Short stature Microcephaly Hypertension Central nervous system degeneration Muscle fiber necrosis Respiratory tract infection Right ventricular dilatation Increased endomysial connective tissue Left ventricular systolic dysfunction Abnormal macrophage morphology EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Absent muscle fiber gamma sarcoglycan Reduced muscle fiber alpha sarcoglycan Anemia Tremor Splenomegaly Recurrent respiratory infections Jaundice Hemolytic anemia Congenital hemolytic anemia Dyskinesia Neuronal loss in central nervous system Oligohydramnios Progressive muscle weakness Decreased nerve conduction velocity Cholelithiasis Macrocytic anemia Abnormality of immune system physiology Diaphragmatic paralysis Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Late-onset proximal muscle weakness



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