Myopathy, and Congenital cataract

Diseases related with Myopathy and Congenital cataract

In the following list you will find some of the most common rare diseases related to Myopathy and Congenital cataract that can help you solving undiagnosed cases.

Top matches:

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Other less relevant matches:

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

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

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Top 5 symptoms//phenotypes associated to Myopathy and Congenital cataract

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopathy and Congenital cataract. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Elevated serum creatine phosphokinase

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Generalized muscle weakness Skeletal muscle atrophy Cerebellar hypoplasia Fatigue Gait disturbance Muscular dystrophy Lactic acidosis Myopia Spasticity Microcephaly Ragged-red muscle fibers Hyporeflexia Respiratory insufficiency Intellectual disability, severe Glaucoma Abnormality of the cerebral white matter Motor delay Failure to thrive Pachygyria Congenital muscular dystrophy Hypoplasia of the brainstem Areflexia Exercise intolerance Optic atrophy Ptosis Dysarthria Respiratory distress Nystagmus Myalgia Acidosis Ataxia Easy fatigability Proximal muscle weakness Abnormality of the liver Polymicrogyria Rigidity Scoliosis Growth delay Encephalocele Hypoplasia of the corpus callosum Cerebellar atrophy Hypoglycosylation of alpha-dystroglycan Muscle cramps Lissencephaly Gait ataxia Infantile muscular hypotonia Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Hearing impairment Macrocephaly Flexion contracture Abnormal levels of creatine kinase in blood Buphthalmos Elevated hepatic transaminase Dilated cardiomyopathy Retinal dysplasia Dysphagia Cognitive impairment Tremor Ventriculomegaly EEG abnormality Hydrocephalus Intrauterine growth retardation Hypertonia Cardiomyopathy Increased serum lactate Microphthalmia Dilatation Skeletal myopathy Mitochondrial myopathy Agenesis of corpus callosum Dysphonia Hypertrophic cardiomyopathy Visual impairment

Rare Symptoms - Less than 30% cases

Cerebral atrophy Waddling gait Short stature Difficulty walking Hip dysplasia Constipation Hyperlordosis Brachycephaly Hepatomegaly Cerebral cortical atrophy Delayed speech and language development Pain Feeding difficulties Hepatic steatosis Abnormality of the pinna Scapular winging Progressive muscle weakness Arrhythmia Hypogonadism Lethargy Limb muscle weakness Coma Left ventricular hypertrophy Sensorimotor neuropathy Edema Hypergonadotropic hypogonadism Difficulty climbing stairs Rhabdomyolysis Ketosis Muscle fiber necrosis Abnormal facial shape Type I diabetes mellitus Depressivity Peripheral neuropathy Restrictive ventilatory defect Heterotopia Progressive proximal muscle weakness Retinopathy Retinal detachment Microcornea Specific learning disability Cerebellar vermis hypoplasia Renal dysplasia Increased variability in muscle fiber diameter Abnormality of the cerebellar vermis Metatarsus valgus Abnormal lactate dehydrogenase activity Aplasia/Hypoplasia involving the skeletal musculature Abnormal aldolase level Cardiorespiratory arrest Hip dislocation Organic aciduria Agyria Abnormality of mitochondrial metabolism EMG abnormality Meningocele Megalocornea Retinal atrophy Congenital glaucoma Cortical dysplasia Optic nerve hypoplasia Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Severe muscular hypotonia Intellectual disability, profound Headache Abnormality of movement Neurological speech impairment Coloboma Neonatal hypotonia Gowers sign External ophthalmoplegia Ophthalmoplegia Infantile axial hypotonia Decreased activity of mitochondrial respiratory chain Sensorineural hearing impairment Congestive heart failure Abnormal muscle fiber protein expression Dyspnea Premature ovarian insufficiency Aciduria Cardiac arrest Smooth philtrum Decreased antibody level in blood Short metacarpal Progressive cerebellar ataxia Dyskinesia Short palm Pectus carinatum Synophrys Limb ataxia Intellectual disability, moderate Deeply set eye Pes planus Kyphoscoliosis Severe short stature Recurrent infections Kyphosis Hypertrichosis Muscle stiffness Short thumb Abnormality of finger Fever Depressed nasal bridge Cerebellar cortical atrophy Muscle flaccidity Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Centrally nucleated skeletal muscle fibers Brachydactyly Rimmed vacuoles External genital hypoplasia Myopathic facies Cubitus valgus Short metatarsal Abnormality of the metacarpal bones Sandal gap Coxa valga Abnormality of the skeletal system Epicanthus Diarrhea Exertional dyspnea Reduced tendon reflexes Progressive external ophthalmoplegia Bipolar affective disorder Gonadal dysgenesis Hyperthyroidism Secondary amenorrhea Bilateral ptosis Resting tremor Hypomimic face Hypokinesia Progressive sensorineural hearing impairment Glucose intolerance Sensory axonal neuropathy Ophthalmoparesis Goiter Ventricular arrhythmia EMG: myopathic abnormalities Facial diplegia Shoulder girdle muscle weakness High palate Nocturia Muscular hypotonia of the trunk Focal white matter lesions Quadriceps muscle weakness Progressive ophthalmoplegia Subsarcolemmal accumulations of abnormally shaped mitochondria Acute rhabdomyolysis Multiple mitochondrial DNA deletions Impaired distal proprioception Impaired distal vibration sensation Reduced ejection fraction Cytochrome C oxidase-negative muscle fibers Progressive hearing impairment Gastroparesis Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Testicular atrophy Abnormality of the mitochondrion Absent Achilles reflex Vomiting Encephalopathy Behavioral abnormality Respiratory arrest Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Acute pancreatitis Limb tremor Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Impaired mastication Renal cortical cysts Excessive daytime somnolence Ethylmalonic aciduria Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Reye syndrome-like episodes Cataplexy Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Chronic fatigue Ketonuria 3-Methylglutaconic aciduria Joint hyperflexibility Cardiomegaly Gliosis Tetraplegia Renal cyst Metabolic acidosis Pulmonary hypoplasia Nausea Nausea and vomiting Abnormality of the genital system Respiratory tract infection Telecanthus Hypoglycemia Jaundice Arthralgia High forehead Weight loss Respiratory failure Tetraparesis Anorexia Myoglobinuria Polycystic kidney dysplasia Drowsiness Fatigable weakness Acute kidney injury Glycosuria Ventricular fibrillation Stridor Hemiplegia Back pain Slurred speech Wide anterior fontanel Poor head control Mutism Hyperammonemia Spastic tetraparesis Pancreatitis Clonus Leukodystrophy Decreased liver function Rotary nystagmus Abnormal myelination Cerebral visual impairment Hydronephrosis Cleft upper lip Anal atresia Corneal opacity Microtia Aplasia/Hypoplasia of the cerebellum Protruding ear Cleft lip Proptosis Iris coloboma Posteriorly rotated ears Hemiplegia/hemiparesis Blindness Frontal bossing Stroke Low-set ears Cryptorchidism Cleft palate Oral cleft Retinal dystrophy Exophoria Anophthalmia Abnormality of the optic nerve Abnormal cortical gyration Bilateral cleft lip Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Abnormality of neuronal migration Congenital contracture Abnormality of the voice Atresia of the external auditory canal Opacification of the corneal stroma Hemiparesis Hypoplasia of penis Pulmonary arterial hypertension Dandy-Walker malformation Bifid uvula Esotropia Hypertelorism Cerebral white matter atrophy Peters anomaly Poor speech Focal-onset seizure Decreased light- and dark-adapted electroretinogram amplitude Chorea Uncontrolled eye movements Hypoplasia of the retina Inability to walk Unsteady gait Carious teeth Generalized-onset seizure Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Short nasal bridge Enlarged flash visual evoked potentials Hypertension Mental deterioration Osteopenia Hyperkeratosis Undetectable electroretinogram Apraxia Dystonia Esophagitis Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Speech apraxia Achalasia Feeding difficulties in infancy Lower limb spasticity Absent speech Adrenal insufficiency Athetosis Impulsivity Limb-girdle muscular dystrophy CNS hypomyelination Hypoplasia of the pons Truncal ataxia Aqueductal stenosis Muscle fiber splitting Thrombocytopenia Midface retrusion Inferior vermis hypoplasia Diabetes mellitus Exercise-induced lactic acidemia Osteoporosis Pes cavus Micrognathia Malar flattening Myoclonus Gastroesophageal reflux Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Exaggerated startle response Myocardial fibrosis Ankle contracture Anencephaly Atrophy/Degeneration affecting the brainstem Hypothyroidism Anxiety Transposition of the great arteries Pigmentary retinopathy Decreased serum ferritin Frequent falls Palpitations Primary amenorrhea Atrial fibrillation Abnormality of extrapyramidal motor function Bradykinesia Amenorrhea Facial palsy Migraine Parkinsonism Right ventricular hypertrophy Sensory neuropathy Peripheral axonal neuropathy Abnormality of eye movement Obesity Fatty replacement of skeletal muscle Weak cry Spinal rigidity Corneal dystrophy Chorioretinal dysplasia Severe global developmental delay Pectus excavatum Atrial septal defect Eosinophilia Thick cerebral cortex Retinal degeneration Hypoplastic male external genitalia Everted lower lip vermilion Recurrent upper respiratory tract infections Macrogyria Severe hydrocephalus High myopia Tachypnea Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Apnea Camptodactyly of finger Generalized amyotrophy Congenital hip dislocation Multiple joint contractures Calf muscle hypertrophy Depletion of mitochondrial DNA in muscle tissue Skeletal muscle hypertrophy Mask-like facies Plagiocephaly Knee flexion contracture Hemivertebrae Bradycardia Abnormal electroretinogram Preauricular skin tag Brain atrophy Abnormal cerebellum morphology Pulmonic stenosis Hypermetropia Arthrogryposis multiplex congenita Dolichocephaly Pallor Abnormality of blood glucose concentration


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