Generalized hypotonia, and Hyporeflexia

Diseases related with Generalized hypotonia and Hyporeflexia

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

Top matches:

MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

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

Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13|gpibd13

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Other less relevant matches:

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|aidp|acute inflammatory polyneuropathy|acute idiopathic demyelinating polyneuropathy|gbs, acute inflammatory demyelinating polyradiculoneuropathic form

Related symptoms:

  • Generalized hypotonia
  • Hyporeflexia
  • Gait ataxia
  • Unsteady gait
  • Drooling


SOURCES: ORPHANET MENDELIAN

More info about ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

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

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 13 Is also known as coxpd13

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 13

Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B ) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A

Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.

POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA Is also known as polymicrogyria with optic nerve hypoplasia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hyporeflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as ssadh deficiency|4-hydroxybutyric aciduria|gaba metabolic defect|gamma-hydroxybutyric aciduria

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Gait disturbance
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

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

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Motor delay Scoliosis Gait disturbance Intellectual disability Dystonia Nystagmus Increased variability in muscle fiber diameter Severe muscular hypotonia Intellectual disability, profound Absent speech Delayed speech and language development Myopathy Areflexia Choreoathetosis Progressive muscle weakness Limb ataxia Respiratory insufficiency Dysarthria Tremor Respiratory insufficiency due to muscle weakness Rigidity Myoclonus Muscular hypotonia Behavioral abnormality Abnormality of metabolism/homeostasis Strabismus Abnormality of brainstem morphology Colpocephaly Hyperactivity Hypoplasia of the brainstem Autism Optic nerve hypoplasia Nemaline bodies Polymicrogyria Achilles tendon contracture Respiratory tract infection Neonatal hypotonia Anxiety Neck flexor weakness Agenesis of corpus callosum Increased connective tissue Muscle fiber atrophy Hand muscle atrophy Microcephaly Progressive proximal muscle weakness Neck muscle weakness Rimmed vacuoles Spinal rigidity EEG abnormality Intellectual disability, moderate Abnormality of the nervous system Absence seizures Hyperlordosis Facial palsy Paroxysmal dystonia Cataplexy Waddling gait Foot dorsiflexor weakness Disinhibition Obsessive-compulsive behavior Self-injurious behavior Hyperkinesis Scapular winging Oculomotor apraxia Hallucinations Aggressive behavior Clumsiness Reduced tendon reflexes Status epilepticus Apraxia Aciduria Generalized myoclonic seizures Sleep disturbance Abnormality of eye movement Generalized tonic-clonic seizures Centrally nucleated skeletal muscle fibers Autistic behavior Abnormality of the eye Distal muscle weakness Psychosis Limb dystonia Gowers sign Saccadic smooth pursuit Distal lower limb muscle weakness EMG: neuropathic changes Episodic fever Onion bulb formation Drooling Unsteady gait EEG with focal spikes Cerebellar hypoplasia Cerebral atrophy Hypoplasia of the corpus callosum Intrauterine growth retardation Abnormality of the Achilles tendon Hyporeflexia of lower limbs Acute demyelinating polyneuropathy Cerebellar vermis atrophy Gaze-evoked nystagmus Sensory impairment Progressive cerebellar ataxia Cognitive impairment Cerebral white matter atrophy Organic aciduria Abnormality of mitochondrial metabolism Inability to walk Lactic acidosis Hypertrophic cardiomyopathy Acidosis Cardiomyopathy Dysesthesia Sleepy facial expression Poor head control Growth delay Frequent falls Falls Proximal muscle weakness Respiratory failure Elevated serum creatine phosphokinase Flexion contracture Decreased nerve conduction velocity Dyskinesia Muscular hypotonia of the trunk Dysphagia Skeletal muscle atrophy Feeding difficulties Gaze-evoked horizontal nystagmus Impaired oropharyngeal swallow response Hyperactive deep tendon reflexes Brisk reflexes Impaired vibratory sensation Truncal ataxia Bilateral sensorineural hearing impairment Sensory neuropathy Babinski sign Cerebellar atrophy Hyperreflexia Peripheral neuropathy Spasticity Sensorineural hearing impairment Hearing impairment Wrist drop


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