Generalized hypotonia, and Abnormal pyramidal sign

Diseases related with Generalized hypotonia and Abnormal pyramidal sign

In the following list you will find some of the most common rare diseases related to Generalized hypotonia 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:

Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.

HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY Is also known as hbsl|aspartyl-trna synthetase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

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

Medium match CLN13 DISEASE

Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

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 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

SPINOCEREBELLAR ATAXIA TYPE 31 Is also known as sca31|spinocerebellar ataxia, 16q22-linked

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 31

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS Is also known as autosomal recessive axonal charcot-marie-tooth disease type 2k|autosomal recessive axonal cmt4c4|charcot-marie-tooth disease, axonal, autosomal recessive, type 2k|arcmt2k|charcot-marie-tooth neuropathy, axonal, type 2k

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Abnormal pyramidal sign

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Abnormal pyramidal sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Nystagmus Dysarthria Limb ataxia Cerebellar atrophy Muscular hypotonia Motor delay Seizures Truncal ataxia

Rare Symptoms - Less than 30% cases

Difficulty walking Myoclonus Frequent falls Peripheral neuropathy Muscular hypotonia of the trunk Tremor Cognitive impairment Personality changes Aspiration pneumonia Developmental stagnation Atypical absence seizures Focal impaired awareness seizure Hemiclonic seizures Hearing impairment Sensorineural hearing impairment Diffuse cerebral atrophy Aspiration Status epilepticus Epileptic encephalopathy Febrile seizures Generalized myoclonic seizures Postural tremor Generalized tonic-clonic seizures Abnormality of the nervous system Pneumonia Fever Frontal release signs Emotional lability Primitive reflex Cyanosis Hyperactive deep tendon reflexes Hyporeflexia Limb muscle weakness Hand muscle atrophy Vocal cord paresis Abnormal cranial nerve morphology Decreased number of peripheral myelinated nerve fibers Decreased motor nerve conduction velocity Decreased nerve conduction velocity Split hand Peripheral demyelination Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Lower limb muscle weakness Abnormality of the foot Distal muscle weakness Gait ataxia Proximal muscle weakness Kyphoscoliosis Areflexia Talipes equinovarus Gait disturbance Skeletal muscle atrophy Muscle weakness Gaze-evoked horizontal nystagmus Neuronal loss in central nervous system Brisk reflexes Impaired vibratory sensation Bilateral sensorineural hearing impairment Sensory neuropathy Abnormality of extrapyramidal motor function Titubation Focal-onset seizure Ragged-red muscle fibers Abnormality of the cerebral white matter Pallor Intellectual disability, mild Hypoplasia of the corpus callosum Mask-like facies Failure to thrive in infancy Severe muscular hypotonia Failure to thrive Microcephaly Paroxysmal choreoathetosis Decreased light- and dark-adapted electroretinogram amplitude Progressive extrapyramidal movement disorder Leukoencephalopathy Self-mutilation Infantile muscular hypotonia Absence seizures Involuntary movements Intellectual disability, profound Abnormality of movement Autistic behavior Hyperactivity Behavioral abnormality Hypertonia Intellectual disability, severe Delayed speech and language development Lower limb spasticity CNS hypomyelination Dyskinesia Abnormality of eye movement Mental deterioration Rigidity Dementia Depressivity Cerebral atrophy Head titubation Hypometric saccades Spastic ataxia Limb dystonia Leukodystrophy Neurodegeneration Abnormality of the eye Strabismus Dystonia Generalized neonatal hypotonia Nonprogressive cerebellar ataxia Saccadic smooth pursuit Spastic dysarthria Action tremor Clumsiness Cerebellar vermis hypoplasia Intention tremor Unsteady gait Neonatal hypotonia Cerebellar hypoplasia Axonal regeneration


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