Generalized hypotonia, and Babinski sign

Diseases related with Generalized hypotonia and Babinski sign

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Babinski sign that can help you solving undiagnosed cases.

Top matches:

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

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

Other less relevant matches:

High 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

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

Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.

SPINOCEREBELLAR ATAXIA TYPE 10 Is also known as sca10

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 10

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Babinski sign

Symptoms // Phenotype % cases
Hyperreflexia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyporeflexia Ataxia Muscular hypotonia of the trunk Motor delay Unsteady gait Seizures Dyskinesia Intellectual disability

Rare Symptoms - Less than 30% cases

Muscle weakness Gait ataxia Progressive cerebellar ataxia Cerebral atrophy Depressivity Mental deterioration Hearing impairment Peripheral neuropathy Distal sensory impairment Distal muscle weakness Impaired vibratory sensation Progressive microcephaly Pes cavus Brisk reflexes Gait disturbance Microcephaly Visual impairment Hypertonia Skeletal muscle atrophy Inability to walk Tremor Global developmental delay Cerebellar hypoplasia Truncal ataxia Lower limb spasticity Intention tremor Clumsiness Hypoplasia of the corpus callosum Frequent falls Strabismus Difficulty walking Steppage gait Polyneuropathy Postural instability Dysmetria Gait imbalance Sensory impairment Sleep disturbance Waddling gait Peripheral demyelination Generalized-onset seizure Dysdiadochokinesis Impaired smooth pursuit Split hand Sensorimotor neuropathy Kinetic tremor Gowers sign Status epilepticus Urinary urgency Apathy Focal impaired awareness seizure Gaze-evoked nystagmus Myopathy Scanning speech Clonus Areflexia Elevated serum creatine phosphokinase Proximal muscle weakness Limb muscle weakness Limb hypertonia Cortical gyral simplification Opisthotonus Flexion contracture of finger Hypoplasia of the brainstem Poor suck Involuntary movements Extrapyramidal dyskinesia Sloping forehead Epileptic encephalopathy Chorea Encephalopathy Dystonia Ventriculomegaly Abnormality of the foot Lower limb muscle weakness Feeding difficulties EEG with generalized epileptiform discharges Focal motor seizures Aggressive behavior Cerebral cortical atrophy Hyperactive patellar reflex Action tremor Neuronal loss in central nervous system Focal-onset seizure Rigidity Myoclonus Dementia Cognitive impairment Generalized neonatal hypotonia Nonprogressive cerebellar ataxia Saccadic smooth pursuit Spastic dysarthria Cerebellar vermis hypoplasia Personality changes Neonatal hypotonia CNS hypomyelination Leukoencephalopathy Abnormality of the cerebral white matter Pallor Intellectual disability, mild Paroxysmal choreoathetosis Decreased light- and dark-adapted electroretinogram amplitude Ragged-red muscle fibers Muscular hypotonia Abnormality of extrapyramidal motor function Postural tremor Poor fine motor coordination Visual loss Absent Achilles reflex Ankle contracture Bulbar palsy Progressive spasticity Spastic paraparesis Knee flexion contracture Spastic gait Distal amyotrophy Paraplegia Spastic paraplegia Flexion contracture Emotional lability Absent speech Gaze-evoked horizontal nystagmus Hyperactive deep tendon reflexes Limb ataxia Bilateral sensorineural hearing impairment Sensory neuropathy Sensorineural hearing impairment Frontal release signs Primitive reflex Diffuse cerebral atrophy Axonal degeneration


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