Global developmental delay, and Pain

Diseases related with Global developmental delay and Pain

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

Top matches:

EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Motor delay
  • Fever
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Muscular hypotonia
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS

Other less relevant matches:

Low match DYSTONIA 16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16 Is also known as dyt16|early-onset dystonia parkinsonism

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DYSTONIA 16

Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4J Is also known as charcot-marie-tooth disease, autosomal recessive, type 4j|cmt4j

Related symptoms:

  • Global developmental delay
  • Muscle weakness
  • Pain
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4J

The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.

HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia|gamstorp disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS; HYPP

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13

PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC Is also known as paralysis periodica paramyotonica

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Gait disturbance
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24

Top 5 symptoms//phenotypes associated to Global developmental delay and Pain

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Pain. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Elevated serum creatine phosphokinase Muscle stiffness Paralysis Myalgia

Rare Symptoms - Less than 30% cases

Lid lag on downgaze Periodic hyperkalemic paralysis Myotonia Periodic paralysis Unsteady gait Dystonia Abnormal facial shape Constipation Falls Scoliosis Loss of consciousness Skeletal muscle hypertrophy Generalized muscle weakness Microcephaly Seizures Fever Skeletal muscle atrophy Involuntary movements Generalized tonic-clonic seizures Decreased activity of mitochondrial complex I Brain atrophy Autism Developmental regression Severe global developmental delay Generalized-onset seizure Focal-onset seizure Epileptic encephalopathy Cerebral atrophy Hypsarrhythmia Progressive microcephaly Absence seizures Global brain atrophy Encephalopathy Ataxia Aggressive behavior Cerebellar atrophy Epileptic spasms Toe syndactyly Episodic flaccid weakness Thick lower lip vermilion Sacral dimple Tented upper lip vermilion Ketosis Poor eye contact Fair hair Mood swings Clinodactyly Myopathy Infantile spasms Neonatal hypotonia Feeding difficulties Congestive heart failure Caesarian section Severe lactic acidosis Decreased activity of mitochondrial complex IV Poor appetite Abnormality of mitochondrial metabolism Ragged-red muscle fibers Bradycardia Decreased fetal movement Increased serum lactate Lactic acidosis Polyhydramnios Acidosis Respiratory failure Abdominal pain Syndactyly Increased serum pyruvate Inspiratory stridor Progressive muscle weakness Laryngomalacia Stridor Hyperkalemia Hand muscle weakness Mandibular prognathia Percussion myotonia Edema Handgrip myotonia Neonatal inspiratory stridor Paradoxical myotonia Recurrent infections Fatigue Respiratory insufficiency Hypertension Decreased nerve conduction velocity Short stature Abnormal left ventricle morphology Exercise intolerance Delayed gross motor development Gowers sign Shoulder girdle muscle weakness Reduced ejection fraction Myocardial fibrosis Pelvic girdle muscle weakness Lower limb muscle weakness Abnormal muscle fiber dystrophin expression Cognitive impairment Delayed speech and language development Hyperreflexia Dysarthria Tremor Dysphagia Muscle cramps Dilated cardiomyopathy Abnormal pyramidal sign Myoclonus Ptosis Pneumonia Pectus carinatum Bilateral ptosis Muscle fibrillation Halitosis Abnormality of the nervous system Behavioral abnormality Apnea Febrile seizures Cyanosis Exercise-induced myalgia Myokymia Focal clonic seizures Muscular hypotonia Rigidity Stroke Peripheral hypomyelination Peripheral demyelination Hyporeflexia Proximal muscle weakness Distal muscle weakness Paresthesia Distal sensory impairment Polyneuropathy Frequent falls Peripheral neuropathy Sensorimotor neuropathy Decreased motor nerve conduction velocity Difficulty climbing stairs Axonal loss Onion bulb formation Distal arthrogryposis Ankle contracture Areflexia Retrocollis Dyskinesia Postural tremor Parkinsonism Bradykinesia Torticollis Ischemic stroke Dysphonia Language impairment Akinesia Limb pain Limb dystonia Generalized dystonia Morphological abnormality of the pyramidal tract Orofacial dyskinesia Laryngeal dystonia Lower limb pain Facial grimacing Horizontal eyebrow


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