Global developmental delay, and Tremor

Diseases related with Global developmental delay and Tremor

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Tremor
  • Intellectual disability, moderate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71 Is also known as spg71

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70 Is also known as spg70

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Intellectual disability, mild
  • Abnormality of movement
  • Nephrotic syndrome


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.

CEREBELLAR ATAXIA, CAYMAN TYPE Is also known as cayman ataxia

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, CAYMAN TYPE

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Hypoplasia of the corpus callosum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized myoclonic seizures Cerebellar atrophy Generalized hypotonia

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Spasticity Hand tremor Progressive spastic paraplegia Cerebellar hypoplasia Lower limb spasticity Abnormality of movement Truncal ataxia Nystagmus Hyperreflexia Peripheral neuropathy Atonic seizures Absence seizures Status epilepticus Cognitive impairment Autistic behavior Abnormal myelination Motor delay Myoclonus Leukodystrophy Delayed speech and language development Dystonia Gait ataxia Myoclonic atonic seizures EEG with abnormally slow frequencies Interstitial pulmonary abnormality Eyelid myoclonus Photosensitive tonic-clonic seizures EEG with spike-wave complexes (>3.5 Hz) Abnormality of the eye Abnormal brain FDG positron emission tomography Nephrotic syndrome Abnormal pyramidal sign Myopia Abnormality of eye movement Neurodegeneration Limb ataxia Epileptic encephalopathy Limb dystonia Spastic ataxia Titubation Hypometric saccades Head titubation Muscular hypotonia Intention tremor Broad-based gait Abnormal retinal morphology Impulsivity Rigidity Febrile seizures EMG abnormality Abnormality of the dentition Hypogonadism Abnormality of the nervous system CNS hypomyelination Intellectual disability, moderate Narrow palate Autism EEG abnormality Abnormal cerebellum morphology Babinski sign Spastic gait Abnormal facial shape Falls Gait disturbance Absent speech Hyperactivity Dysmetria Inability to walk Vegetative state Scoliosis Aggressive behavior Mental deterioration Developmental regression Generalized tonic-clonic seizures Nonprogressive cerebellar ataxia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Recurrent fractures, related diseases and genetic alterations Delayed speech and language development and Choanal atresia, related diseases and genetic alterations Ptosis and Generalized tonic-clonic seizures, related diseases and genetic alterations Failure to thrive and Urinary incontinence, related diseases and genetic alterations Micrognathia and Small hand, related diseases and genetic alterations Microcephaly and Chorea, related diseases and genetic alterations