Cardiomyopathy, and Progressive cerebellar ataxia

Diseases related with Cardiomyopathy and Progressive cerebellar ataxia

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


Top matches:

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

Medium match SPINOCEREBELLAR ATAXIA WITH EPILEPSY


Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

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

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Other less relevant matches:

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Medium match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

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

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Medium match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Medium match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Medium match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy

Common Symptoms - More than 50% cases


Dysarthria

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Cataract Abnormal pyramidal sign Intellectual disability Myoclonus Short stature Encephalopathy Gait disturbance Ptosis Muscle weakness Strabismus Spasticity Anemia Hyperreflexia Optic atrophy Abnormality of movement Dystonia Acidosis Cerebellar atrophy Tremor Falls Abnormality of eye movement Dilated cardiomyopathy Mental deterioration Abnormal facial shape Dysphagia Hepatomegaly Visual impairment Visual loss Scoliosis Neurodegeneration Hypertrophic cardiomyopathy Cognitive impairment Respiratory distress Fatigue Kyphosis Babinski sign Respiratory failure Proteinuria Limb ataxia Ragged-red muscle fibers Sensory axonal neuropathy Metabolic acidosis Pallor Congestive heart failure Hypogonadism Slurred speech Dysmetria Intrauterine growth retardation Inguinal hernia Dementia Microcephaly Recurrent infections Hernia Skeletal muscle atrophy Motor delay Hyperactivity Generalized hypotonia Pes cavus Ophthalmoplegia Gait ataxia Pericardial effusion Blindness Myopathy Increased serum lactate Pigmentary retinopathy Lactic acidosis Depressivity Areflexia Muscular hypotonia Generalized myoclonic seizures

Rare Symptoms - Less than 30% cases


Small for gestational age Hypergonadotropic hypogonadism Prominent nasal bridge Hypermetropia Oral-pharyngeal dysphagia Splenomegaly Flexion contracture Macrocephaly Oculomotor apraxia Exercise intolerance Thrombocytopenia Progressive neurologic deterioration Muscular hypotonia of the trunk Edema Vomiting Patent ductus arteriosus Renal insufficiency Cyanosis Coarctation of aorta Leukopenia Pancytopenia Stroke Hepatic failure Specific learning disability Apraxia Short philtrum Abnormal lung morphology Lymphopenia Dyspnea Retinopathy Insulin resistance Abnormal cerebellum morphology Optic disc pallor Mandibular prognathia Ventricular hypertrophy Intention tremor Left ventricular hypertrophy Severe short stature Limb muscle weakness Incoordination Dysdiadochokinesis Optic neuropathy Recurrent respiratory infections Clinodactyly Obesity Cryptorchidism Sensory neuropathy Deeply set eye Midface retrusion Hydrops fetalis Osteopenia Hepatosplenomegaly Corneal opacity Sparse hair Ascites Cardiomegaly Hyperactive deep tendon reflexes Difficulty walking Thoracic kyphosis Talipes equinovarus Postnatal growth retardation Arrhythmia Rigidity Diabetes mellitus Kyphoscoliosis Abnormal saccadic eye movements Respiratory insufficiency Severe global developmental delay Hyporeflexia Coma Pneumonia Leukodystrophy Ophthalmoparesis Unsteady gait Elevated serum creatine phosphokinase Increased CSF lactate Febrile seizures Status epilepticus Migraine Delayed speech and language development Decreased activity of mitochondrial respiratory chain Cerebral atrophy Hypoglycemia Aciduria Proximal muscle weakness Memory impairment Gliosis Progressive visual loss Spastic paraparesis Paraparesis Peripheral axonal neuropathy Polyneuropathy Choreoathetosis Apnea Positive Romberg sign Brain atrophy Ventricular septal defect Leukoencephalopathy Axial dystonia Cleft palate Low-set ears Hypertension Biventricular hypertrophy Hypertelorism Exercise-induced lactic acidemia Acute necrotizing encephalopathy Infantile encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Brachydactyly Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Malabsorption Hypospadias Astrocytosis Camptodactyly Thin vermilion border Oral cleft Astigmatism Platyspondyly Cough Microtia Abnormal cardiac septum morphology Scarring Blepharophimosis Joint stiffness Autistic behavior Respiratory tract infection Cleft lip Abnormality of the skeletal system Conductive hearing impairment Thin upper lip vermilion Autism Narrow mouth Protein-losing enteropathy Constipation Abnormal heart morphology Abnormality of cardiovascular system morphology Microphthalmia Syndactyly Malar flattening Behavioral abnormality Short neck Generalized osteosclerosis Aortic valve calcification Stiff neck Stage 5 chronic kidney disease Horizontal supranuclear gaze palsy Cardiac arrest Aspiration Wide anterior fontanel Cardiac valve calcification Congenital diaphragmatic hernia Abnormality of ion homeostasis Premature birth Hepatic steatosis Dyskinesia Talipes Pancreatitis Lethargy Abnormality of the liver Irritability Developmental regression Feeding difficulties in infancy Abnormality of the eye Myalgia Agenesis of corpus callosum Abnormality of the acoustic reflex Atrial septal defect Horizontal nystagmus Shock Acute pancreatitis Aspiration pneumonia Cerebral edema Severe lactic acidosis Abnormal thrombosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Spontaneous hematomas Nemaline bodies Thick eyebrow Mitral valve calcification Orthopnea Erlenmeyer flask deformity of the femurs Adrenal insufficiency Decreased beta-glucocerebrosidase protein and activity Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Renal tubular acidosis Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Hematological neoplasm Global brain atrophy Restrictive deficit on pulmonary function testing Abnormality of the ribs Short palm Increased susceptibility to fractures Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Peptic ulcer Constrictive median neuropathy Hypoalbuminemia Constrictive pericarditis Cholelithiasis Portal hypertension Craniofacial hyperostosis Restrictive cardiomyopathy Abnormality of the thorax Broad ribs Tracheal stenosis Clubbing Menorrhagia Pulmonary fibrosis Hypoplastic iliac wing Increased antibody level in blood Pear-shaped nose Abnormality of the pubic bone Chronic constipation Syncope Aggressive behavior Abdominal pain Osteoporosis Delayed puberty Lymphadenopathy Cirrhosis Hematuria Abdominal distention Delayed skeletal maturation Hypertonia Abnormal bleeding Diarrhea Generalized muscle hypertrophy Pulmonary arterial hypertension Hydrocephalus Myopia Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Epistaxis Decreased body weight Laryngotracheal stenosis Bone pain Increased bone mineral density Osteolysis Opisthotonus Petechiae Hypoplasia of the maxilla Thickened skin Slow saccadic eye movements Vertebral compression fractures Precocious puberty Short long bone Narrow palpebral fissure EMG abnormality Hypercoagulability Supranuclear gaze palsy Aortic valve stenosis Short toe Abnormality of epiphysis morphology Multiple myeloma Cone-shaped epiphysis Abnormality of the metaphysis Choanal atresia Abnormal myocardium morphology Short palpebral fissure Fine hair Generalized tonic-clonic seizures Abnormality of the cardiovascular system Abnormality of the spleen Amenorrhea Avascular necrosis of the capital femoral epiphysis Limitation of joint mobility Bifid uvula Abnormality of the voice Stridor Oligomenorrhea External genital hypoplasia Irregular vertebral endplates Submucous cleft hard palate Restrictive ventilatory defect Wheezing Pericarditis Arthropathy Keratoconus Thickened calvaria Abnormal joint morphology High hypermetropia Vertebral fusion Short finger Interstitial pulmonary abnormality Radial deviation of finger Abnormal retinal morphology Lower limb hyperreflexia Abnormality of the sternum Bulbar palsy Blurred vision 2-3 toe syndactyly Exertional dyspnea Overlapping toe Abnormal heart valve morphology Aseptic necrosis Hepatocellular carcinoma Skeletal muscle hypertrophy Femoral hernia Incomprehensible speech Feeding difficulties Nephrotic syndrome Scanning speech Tubular atrophy Myoglobinuria Glomerulopathy Generalized amyotrophy Focal segmental glomerulosclerosis Glomerulonephritis Glomerulosclerosis Failure to thrive in infancy Hyperextensible skin Progressive muscle weakness Bilateral sensorineural hearing impairment Glutaric aciduria Muscle cramps Postural instability Nephropathy Joint hyperflexibility Rod-cone dystrophy Intellectual disability, mild Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia 3-Methylglutaconic aciduria Steroid-resistant nephrotic syndrome Recurrent myoglobinuria Skeletal myopathy Foam cells Abnormality of the foot Pes planus Reduced visual acuity Cerebral cortical atrophy Pain Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Bone-marrow foam cells Cherry red spot of the macula Facial edema Vacuolated lymphocytes Dysostosis multiplex Exercise-induced myoglobinuria Barrel-shaped chest Hand tremor Syringomyelia Epiphyseal stippling Laryngomalacia Waddling gait Pectus carinatum Abnormality of the nervous system Coarse facial features Skeletal dysplasia Crescentic glomerulonephritis Rapid neurologic deterioration Abnormality of the basal ganglia Short attention span Vertigo Neuronal loss in central nervous system Axonal degeneration Vestibular dysfunction Mildly elevated creatine phosphokinase Impotence Increased variability in muscle fiber diameter Abnormality of mitochondrial metabolism Bilateral ptosis Progressive hearing impairment External ophthalmoplegia Cerebral visual impairment Frequent falls Focal-onset seizure Decreased number of peripheral myelinated nerve fibers Distal sensory impairment Paresthesia Distal muscle weakness EEG abnormality Weight loss Headache Focal T2 hyperintense basal ganglia lesion Decreased activity of the pyruvate dehydrogenase complex Progressive spastic paraplegia Emotional lability Hypertrichosis Intellectual disability, severe Gaze-evoked nystagmus Centrally nucleated skeletal muscle fibers Athetosis Sensory ataxic neuropathy Spastic tetraparesis Spastic tetraplegia Urinary incontinence Tetraplegia Neutropenia Confusion Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Gastroesophageal reflux Atrophy/Degeneration involving the spinal cord Subsarcolemmal accumulations of abnormally shaped mitochondria Axonal loss Multiple mitochondrial DNA deletions Impaired distal proprioception Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Gastroparesis Acute encephalopathy Intestinal pseudo-obstruction Sensory ataxia Progressive gait ataxia Progressive external ophthalmoplegia Hyperventilation Lower limb muscle weakness Tachycardia Micrognathia Hypothyroidism Bradykinesia Limb undergrowth Decreased testicular size Convex nasal ridge Renal agenesis Broad nasal tip Triangular face Long face Synophrys Attention deficit hyperactivity disorder High forehead Micropenis Hypotelorism Immunodeficiency Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Neoplasm Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Sloping forehead Epidermal acanthosis Abnormality of the dentate nucleus Long nose Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Truncal obesity Renal hypoplasia Cortical gyral simplification Ectopic kidney High pitched voice Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Goiter Acanthosis nigricans Short chin Bone marrow hypocellularity Broad-based gait Cutaneous photosensitivity Temporal optic disc pallor Decreased pyruvate carboxylase activity Inability to walk Ventricular arrhythmia Ketosis Heart block Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Hammertoe Impaired vibratory sensation Cachexia Reduced tendon reflexes Ketoacidosis Muscle stiffness Truncal ataxia Spastic gait Lower limb spasticity Involuntary movements Clumsiness Palpitations Atrial fibrillation Peripheral demyelination Sensory impairment Chorea Chest pain Urinary bladder sphincter dysfunction Increased reactive oxygen species production Mitochondrial malic enzyme reduced Hand muscle atrophy Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Sinus tachycardia Myocardial fibrosis Abnormality of cardiovascular system physiology Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Sleep myoclonus



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