Global developmental delay, and Abnormal pyramidal sign

Diseases related with Global developmental delay and Abnormal pyramidal sign

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

Top matches:

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL Is also known as bilateral striatal necrosis, infantile, mitochondrial|infantile bilateral striatal necrosis, mitochondrial

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Babinski sign
  • Difficulty walking


SOURCES: OMIM MESH MENDELIAN

More info about STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.

HYPOTONIA-FAILURE TO THRIVE-MICROCEPHALY SYNDROME Is also known as leukotriene c4 synthase deficiency|ltc4 synthase deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOTONIA-FAILURE TO THRIVE-MICROCEPHALY SYNDROME

Other less relevant matches:

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

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

SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56 Is also known as spg56

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Intellectual disability, mild
  • Babinski sign
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

Top 5 symptoms//phenotypes associated to Global developmental delay and Abnormal pyramidal sign

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Abnormality of movement Spastic gait Cognitive impairment Limb ataxia Dysarthria Nystagmus Spasticity

Rare Symptoms - Less than 30% cases

Lower limb spasticity Intellectual disability, mild Motor delay Abnormal myelination Peripheral neuropathy Cerebellar atrophy Dystonia Seizures Hypoplasia of the corpus callosum Progressive spastic paraplegia Behavioral abnormality Difficulty walking Intellectual disability, severe Anemia Gait ataxia Fasciculations Diplopia Clumsiness Abnormality of extrapyramidal motor function Parkinsonism Progressive cerebellar ataxia Ophthalmoplegia Aggressive behavior Rigidity Hyporeflexia Sideroblastic anemia Tremor Neoplasm Hemiclonic seizures Atypical absence seizures Developmental stagnation Aspiration pneumonia Focal impaired awareness seizure Aspiration Status epilepticus Cyanosis Apathy Impulsivity Postural tremor Slow saccadic eye movements Scoliosis Microsaccadic pursuit Intermittent microsaccadic pursuits Scanning speech Dysgraphia Cogwheel rigidity Intrauterine growth retardation Abnormality of metabolism/homeostasis Neurological speech impairment Dysmetria Febrile seizures Strabismus Cerebellar vermis atrophy Intention tremor Clonus Incoordination Dysdiadochokinesis Microcytic anemia Hyperactive deep tendon reflexes Hypochromic microcytic anemia Resting tremor Akinesia Epileptic encephalopathy Toe walking Generalized myoclonic seizures Frequent falls Hand tremor EMG abnormality Mask-like facies Failure to thrive in infancy Severe muscular hypotonia Failure to thrive Microcephaly Paroxysmal choreoathetosis Decreased light- and dark-adapted electroretinogram amplitude Ragged-red muscle fibers Progressive extrapyramidal movement disorder Abnormality of eye movement Self-mutilation Infantile muscular hypotonia Absence seizures Involuntary movements Intellectual disability, profound Autistic behavior Hyperactivity Myoclonus Hypertonia Delayed speech and language development Abnormality of the eye Neurodegeneration Generalized tonic-clonic seizures Lower limb hyperreflexia Abnormality of the nervous system Pneumonia Fever Aplasia/Hypoplasia of the cerebellar vermis Limb tremor Generalized amyotrophy Cerebral cortical atrophy Agenesis of corpus callosum Abnormal globus pallidus morphology Basal ganglia calcification Peripheral axonal neuropathy Leukodystrophy Unsteady gait Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Head titubation Hypometric saccades Titubation Spastic ataxia Limb dystonia Truncal ataxia Nonprogressive cerebellar ataxia


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