Myopathy, and Severe global developmental delay

Diseases related with Myopathy and Severe global developmental delay

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


Top matches:

High match LETHAL INFANTILE MITOCHONDRIAL MYOPATHY


Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

LETHAL INFANTILE MITOCHONDRIAL MYOPATHY Is also known as limd|limm|lethal infantile mitochondrial disease

Related symptoms:

  • Myopathy
  • Lactic acidosis
  • Lethal infantile mitochondrial myopathy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL INFANTILE MITOCHONDRIAL MYOPATHY

High match MUSCLE-EYE-BRAIN DISEASE


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

High match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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Other less relevant matches:

High match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

High 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

High match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


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. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

High match DPM1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

High match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

High 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 X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Top 5 symptoms//phenotypes associated to Myopathy and Severe global developmental delay

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Severe global developmental delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Spasticity Ataxia Microcephaly Nystagmus Intellectual disability Ventricular hypertrophy Growth delay Hearing impairment Micrognathia Motor delay Elevated serum creatine phosphokinase Pneumonia Short stature Recurrent infections Cataract Muscular hypotonia Failure to thrive Left ventricular hypertrophy Cerebral atrophy Infantile muscular hypotonia Acidosis Febrile seizures Sensorineural hearing impairment Ptosis Peripheral neuropathy Proximal muscle weakness Hyperreflexia Congestive heart failure Hepatomegaly Encephalopathy Feeding difficulties Aspiration Muscular hypotonia of the trunk Patent ductus arteriosus Dysphagia Depressed nasal bridge Generalized muscle weakness Hypertelorism Respiratory distress Cognitive impairment Agenesis of corpus callosum Intellectual disability, severe Abnormality of the cerebral white matter Visual impairment Cerebellar atrophy Hypertrophic cardiomyopathy Strabismus Abnormality of movement EEG abnormality

Rare Symptoms - Less than 30% cases


Pontocerebellar atrophy Abnormal macular morphology Neurodegeneration Weak cry Poor suck Poor eye contact Progressive spasticity Premature ovarian insufficiency Decreased liver function Respiratory failure Abnormal facial shape Gastroesophageal reflux Respiratory tract infection Developmental regression Feeding difficulties in infancy Rigidity Hypothyroidism Recurrent respiratory infections Renal tubular acidosis Optic neuropathy Depressivity Absent speech Downslanted palpebral fissures Macrocephaly Aspiration pneumonia Delayed speech and language development Low-set ears Dysarthria Delayed myelination Progressive neurologic deterioration Skeletal muscle atrophy Mitochondrial myopathy Ragged-red muscle fibers Exercise intolerance Increased serum lactate Migraine Brain atrophy Gliosis Limb muscle weakness Myalgia Cerebral cortical atrophy Lactic acidosis Respiratory insufficiency Fatigue Tremor Abnormality of the eye Edema Metabolic acidosis Dystonia Dementia Gait ataxia High, narrow palate Hypoglycemia Dilated cardiomyopathy Neutropenia Apnea Coma Progressive cerebellar ataxia Abnormal pyramidal sign Memory impairment Leukoencephalopathy Retinopathy Hyporeflexia Areflexia Malar flattening Ventriculomegaly Hepatic failure Hernia Intellectual disability, profound Hyperactivity Polymicrogyria Dilatation Congenital cataract Coarctation of aorta Gait disturbance Muscular dystrophy Aplasia/Hypoplasia of the corpus callosum Splenomegaly Midface retrusion Pallor Hypoglycosylation of alpha-dystroglycan Hypoplasia of the pons Optic nerve hypoplasia Myoclonus Neonatal hypotonia Hypertonia Hypertension Cerebellar hypoplasia Severe muscular hypotonia Stroke Open mouth Decreased body weight Heterotopia Cerebellar vermis hypoplasia Hypotelorism Narrow forehead Decreased antibody level in blood Sepsis Abnormality of retinal pigmentation Calcinosis Progressive microcephaly Bronchitis Severe failure to thrive Lethal infantile mitochondrial myopathy IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Myopia Abnormality of immune system physiology Centrally nucleated skeletal muscle fibers Macular atrophy Lymphopenia Neurodevelopmental delay Combined immunodeficiency Albinism Congenital sensorineural hearing impairment Adducted thumb Leukopenia Recurrent bacterial infections Increased body weight Triangular face Postnatal growth retardation Hypopigmentation of the skin Increased variability in muscle fiber diameter Type I transferrin isoform profile Abnormal myelination Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Ankle contracture Lower limb hyperreflexia Flat occiput Reduced antithrombin III activity Trigonocephaly Abnormality of vision Hemangioma Venous thrombosis Knee flexion contracture Truncal ataxia Cerebral visual impairment Telangiectasia Microphthalmia Reduced protein C activity Sleep disturbance Coarse facial features Thick vermilion border Wide nose Pulmonary hypoplasia Cleft upper lip Joint stiffness Ocular albinism Cleft lip Hypoplasia of the corpus callosum Hydrocephalus Reduced protein S activity Rod-cone dystrophy Hypospadias Immunodeficiency Long philtrum Anteverted nares Epicanthus High palate Cleft palate Depressed nasal tip Hypoplasia of the thymus Renal tubular dysfunction Cardiac arrest Pericardial effusion Global brain atrophy Adrenal insufficiency Oral-pharyngeal dysphagia Incoordination Shock Pancreatitis Horizontal nystagmus Leukodystrophy Progressive encephalopathy Wide anterior fontanel Cardiomegaly Congenital diaphragmatic hernia Optic disc pallor Pigmentary retinopathy Cyanosis Premature birth Generalized myoclonic seizures Basal ganglia calcification Cardiorespiratory arrest Hepatic steatosis Infantile encephalopathy Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Biventricular hypertrophy Nemaline bodies Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Cerebral edema Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Abnormal cerebellum morphology Dyskinesia Fair hair Recurrent aspiration pneumonia Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Decreased proportion of CD4-positive T cells Aplasia/Hypoplasia of the macula Abnormality of the mandible Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Decreased T cell activation Ureteral atresia Stage 5 chronic kidney disease Renal insufficiency Talipes Abnormality of eye movement Lethargy Abnormality of the liver Irritability Mental deterioration Kyphoscoliosis Babinski sign Vomiting Immunoglobulin IgG2 deficiency Blindness Atrial septal defect Talipes equinovarus Intrauterine growth retardation Anemia Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Postnatal microcephaly Smooth philtrum Intention tremor Inguinal hernia Infantile axial hypotonia Central hypoventilation Bruxism Chronic constipation Facial hypotonia Central hypotonia Hypoventilation Myotonia Abnormal heart morphology Umbilical hernia Poor head control Tented upper lip vermilion Drooling Abnormal cardiac septum morphology Stereotypy Lower limb spasticity Aganglionic megacolon Hostility Syndactyly Attention deficit hyperactivity disorder Paraplegia Urinary incontinence Undetectable electroretinogram Tetraplegia Buphthalmos Decreased light- and dark-adapted electroretinogram amplitude Cerebellar dysplasia Confusion Unsteady gait Spastic paraplegia Ventricular septal defect Type II lissencephaly Cerebellar cyst Uncontrolled eye movements Hypoplasia of the retina Visual loss Short nasal bridge Enlarged flash visual evoked potentials Brachydactyly Chorea Poor speech Retinal dysplasia Calcinosis cutis Oligodactyly Progressive proximal muscle weakness Cryptorchidism Right ventricular hypertrophy Dystrophic toenail Scoliosis Right atrial enlargement Chronic hepatic failure Spastic diplegia Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Hypersplenism Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Aplasia cutis congenita Abnormality of the coagulation cascade Autistic behavior Pulmonary arterial hypertension Pulmonic stenosis Anxiety Ascites Macrotia Hip dysplasia Autism Narrow mouth Brachycephaly Small nail Cutis marmorata Constipation Hyperammonemia Ischemic stroke Patent foramen ovale Abnormality of metabolism/homeostasis Portal hypertension Short nose Abnormality of the dentition Aciduria Progressive visual loss Nail dysplasia Ophthalmoparesis Bipolar affective disorder Insomnia Resting tremor Abnormality of the thyroid gland Coronary artery atherosclerosis Sensory axonal neuropathy Ventricular fibrillation Apathy High myopia Bilateral ptosis Dysphonia Mutism EMG: myopathic abnormalities Progressive hearing impairment External ophthalmoplegia Encephalocele Bradycardia Progressive external ophthalmoplegia Limb-girdle muscle weakness Progressive muscle weakness Neurological speech impairment Dental malocclusion Glaucoma Small hand Short palm Dysmetria Prominent superficial veins Prominent nasal bridge Coloboma Camptodactyly Sensory ataxia Elevated hepatic transaminase Prominent forehead Retinal degeneration Everted lower lip vermilion Flexion contracture Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Cytochrome C oxidase-negative muscle fibers Diplopia Pachygyria Spastic tetraplegia Abnormality of the basal ganglia Retinal atrophy Pain Megalocornea Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia 3-Methylglutaconic aciduria Skeletal myopathy Cortical dysplasia Short attention span Athetosis Meningocele Spastic tetraparesis Spastic paraparesis Paraparesis Limb ataxia Choreoathetosis Congenital glaucoma Hemiplegia/hemiparesis Status epilepticus Paresthesia Bradykinesia Amenorrhea EMG abnormality Opacification of the corneal stroma Holoprosencephaly Parkinsonism Muscle cramps Sensory neuropathy Lower limb muscle weakness Hypoplasia of the brainstem Lissencephaly Ophthalmoplegia Diabetes mellitus Hypogonadism Abnormality of the voice Congenital muscular dystrophy Arrhythmia Aplasia/Hypoplasia of the cerebellum Autophagic vacuoles



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