Spasticity, and Decreased fetal movement

Diseases related with Spasticity and Decreased fetal movement

In the following list you will find some of the most common rare diseases related to Spasticity and Decreased fetal movement that can help you solving undiagnosed cases.


Top matches:

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Medium match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2


Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

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Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21

Medium match ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME


Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14


MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 Is also known as muscular dystrophy, congenital, gmppb-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 1


Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.

PONTOCEREBELLAR HYPOPLASIA TYPE 1 Is also known as pch1|norman disease|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia with anterior horn cell disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 1

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D


Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

Medium match UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY


UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Spasticity and Decreased fetal movement

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Spasticity and Decreased fetal movement. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Absent speech Feeding difficulties Intrauterine growth retardation Encephalopathy Hyperreflexia Flexion contracture Respiratory insufficiency Nystagmus Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Generalized muscle weakness Weak cry Intellectual disability, severe Lactic acidosis Cerebral atrophy Dystonia Cerebellar atrophy Epileptic encephalopathy Fasciculations Ataxia Abnormality of eye movement Hypertrophic cardiomyopathy Intellectual disability, mild Growth delay Abnormal facial shape Hypoplasia of the corpus callosum Arthrogryposis multiplex congenita Polymicrogyria Poor head control Acidosis Muscular hypotonia of the trunk Muscle weakness Dysphagia Congenital muscular dystrophy Ileal atresia Muscular hypotonia Visual impairment Peripheral neuropathy Generalized limb muscle atrophy Progressive microcephaly Limb ataxia Sleep disturbance Sensory neuropathy Hypoglycosylation of alpha-dystroglycan Dyskinesia Abnormality of the foot Paralysis Myopathic facies Skeletal muscle atrophy Optic atrophy Polyhydramnios Prolonged QT interval Talipes equinovarus Feeding difficulties in infancy Mitochondrial respiratory chain defects Poor suck Fractures of the long bones Hyporeflexia Recurrent respiratory infections Respiratory failure Respiratory tract infection Inability to walk Adducted thumb Oral-pharyngeal dysphagia Fever Epicanthus Generalized tonic-clonic seizures Hypodontia Cyanosis Status epilepticus Choreoathetosis Involuntary movements Multifocal seizures Short neck Motor delay Congenital contracture Abnormal anterior horn cell morphology Spinal muscular atrophy Brisk reflexes EMG: neuropathic changes Hypoplasia of the pons Enlarged cisterna magna Tongue fasciculations Degeneration of anterior horn cells Olivopontocerebellar hypoplasia High palate Neuronal loss in basal ganglia Basal ganglia gliosis Intercostal muscle weakness Hypoplasia of the ventral pons Hypertelorism Failure to thrive Low-set ears Torticollis Abnormality of the renal tubule Muscular dystrophy Reduced ejection fraction Tetraparesis Thick lower lip vermilion Sloping forehead Intellectual disability, moderate Aggressive behavior Hyperactivity Long philtrum Wide nasal bridge Delayed speech and language development Micrognathia Persistent lactic acidosis Abnormal posturing Biventricular hypertrophy Primitive reflex Central hypotonia Heterotopia Hypoventilation Gliosis Hepatic steatosis Depressivity Cardiomyopathy Respiratory distress Perisylvian polymicrogyria Fetal akinesia sequence Severe intrauterine growth retardation Cortical dysplasia Akinesia Spastic tetraplegia Tetraplegia Small hand Hemiparesis Pachygyria Elevated serum creatine phosphokinase Opisthotonus Abnormal heart morphology Dilatation Ventriculomegaly Ptosis Cataract Strabismus Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex II Abnormal enzyme/coenzyme activity Hyperalaninemia Abnormal renal physiology Severe lactic acidosis Hypothermia Hypokinesia Aminoaciduria Spastic tetraparesis Bradycardia Postnatal microcephaly Left ventricular hypertrophy Ventricular hypertrophy Increased serum lactate Small for gestational age Apnea Brain atrophy Schizencephaly Abnormal corpus callosum morphology Maternal diabetes Cortical gyral simplification Impulsivity Lissencephaly Focal clonic seizures



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