Generalized hypotonia, and Tremor

Diseases related with Generalized hypotonia and Tremor

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

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

MYOCLONUS-DYSTONIA SYNDROME Is also known as myoclonic dystonia|hereditary essential myoclonus|dystonia, alcohol-responsive|myoclonus-dystonia syndrome|myoclonus, hereditary essential|alcohol-responsive dystonia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cognitive impairment
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOCLONUS-DYSTONIA SYNDROME

Other less relevant matches:

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported (Thony et al., 1998). Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty (summary by Ferre et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of BH4-deficient hyperphenylalaninemia, see HPABH4A (OMIM ).

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D Is also known as hyperphenylalaninemia with primapterinuria|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency|pcbd deficiency|cadh deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Motor delay
  • Tremor
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D

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

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

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

Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 14 Is also known as sca14

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 14

PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Tremor

Symptoms // Phenotype % cases
Dysarthria Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Rigidity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy Muscular hypotonia Cerebellar hypoplasia Myoclonus Dementia Nystagmus Global developmental delay Seizures Truncal ataxia Hyperreflexia

Rare Symptoms - Less than 30% cases

Intellectual disability Saccadic smooth pursuit Nonprogressive cerebellar ataxia Limb ataxia Gait ataxia Neuronal loss in central nervous system Intention tremor Babinski sign Dysmetria Hyperactivity Unsteady gait Depressivity Progressive cerebellar ataxia Dystonia Muscular hypotonia of the trunk Personality changes Abnormality of extrapyramidal motor function Delayed speech and language development Focal-onset seizure Dyskinesia Mental deterioration Abnormal retinal morphology Cerebral atrophy Emotional lability Broad-based gait Peripheral neuropathy Head titubation Hypometric saccades Titubation Spastic ataxia Limb dystonia Leukodystrophy Postural tremor Psychosis Neurodegeneration Bradykinesia Paranoia Senile plaques Lewy bodies Neurofibrillary tangles Resting tremor Orthostatic hypotension Mutism Abnormal autonomic nervous system physiology Hallucinations Memory impairment Primitive reflex Hypotension Gliosis Parkinsonism Weight loss Abnormality of the Achilles tendon Hyporeflexia of lower limbs Cerebellar vermis atrophy Gaze-evoked nystagmus Sensory impairment Frontal release signs Diffuse cerebral atrophy Abnormality of the eye Abnormality of eye movement Panic attack Anxiety Absent speech Hypoplasia of the corpus callosum Gait disturbance Abnormality of movement Chorea Spinal myoclonus Limb myoclonus Cortical myoclonus Generalized myoclonic seizures Agoraphobia Retrocollis Personality disorder Axial dystonia Writer's cramp Torsion dystonia Laryngeal dystonia Obsessive-compulsive behavior Torticollis Inability to walk Vegetative state Abnormal pyramidal sign Cerebellar vermis hypoplasia Involuntary movements Spasticity Generalized neonatal hypotonia Sensory neuropathy Spastic dysarthria Action tremor Frequent falls Clumsiness Loss of ability to walk Hypertonia Neonatal hypotonia Behavioral abnormality Strabismus Transient hyperphenylalaninemia Hyperphenylalaninemia Hypomagnesemia Overweight Type II diabetes mellitus Diabetes mellitus Auditory hallucinations


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