Generalized hypotonia, and Peripheral axonal neuropathy

Diseases related with Generalized hypotonia and Peripheral axonal neuropathy

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

Top matches:

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn|autosomal recessive distal spinal muscular atrophy type 5|dsma5

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY

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

Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE TYPE 2S Is also known as charcot-marie-tooth neuropathy, type 2s|cmt2s|charcot-marie-tooth disease, axonal, autosomal recessive, type 2s

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2S

Other less relevant matches:

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2R Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2r|cmt2r|charcot-marie-tooth neuropathy, type 2r

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2R

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Medium match COG8-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.

COG8-CDG Is also known as cdg2h|congenital disorder of glycosylation type 2h|cdgiih|cdg syndrome type iih|carbohydrate deficient glycoprotein syndrome type iih|congenital disorder of glycosylation type iih|cdg iih|cdg-iih

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about COG8-CDG

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Peripheral axonal neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Areflexia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Peripheral axonal neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance Motor delay Foot dorsiflexor weakness Pes cavus Distal sensory impairment Ataxia Distal muscle weakness Talipes equinovarus Flexion contracture Cognitive impairment Sensory axonal neuropathy Respiratory insufficiency Dysarthria Scoliosis Proximal muscle weakness Intellectual disability Global developmental delay Sensory neuropathy Lower limb muscle weakness Sensory impairment Limb muscle weakness Difficulty walking

Rare Symptoms - Less than 30% cases

Muscular hypotonia Dysphonia Axonal degeneration Cerebellar atrophy Progressive distal muscle weakness Behavioral abnormality Babinski sign Paralysis Spasticity Polyneuropathy Paresthesia Hammertoe Sensorimotor neuropathy Encephalopathy Hyporeflexia Decreased number of peripheral myelinated nerve fibers Distal amyotrophy Steppage gait Motor axonal neuropathy Spinal muscular atrophy Decreased motor nerve conduction velocity Abnormality of the foot Split hand Abnormal cranial nerve morphology Abnormal pyramidal sign Malnutrition Atrophy/Degeneration affecting the brainstem Acute encephalopathy Spontaneous hematomas Chronic axonal neuropathy Hashimoto thyroiditis Impaired vibratory sensation ST segment elevation Increased serum pyruvate Poor head control Status epilepticus Esotropia Lethargy Myoclonus Positive Romberg sign Limb dysmetria Elevated serum creatine phosphokinase Elevated serum transaminases during infections Abnormality of central motor conduction Ventriculomegaly Alternating esotropia Onion bulb formation Hearing impairment Developmental regression EMG: chronic denervation signs Difficulty standing Anarthria Progressive spastic paraparesis Spastic ataxia Hypoparathyroidism Progressive encephalopathy Mutism Spastic tetraparesis Severe muscular hypotonia Spastic tetraplegia Focal-onset seizure Tetraplegia Hypoplasia of the corpus callosum Hypertonia Optic atrophy Growth delay Neck flexor weakness Decreased number of large peripheral myelinated nerve fibers Myokymia Distal lower limb muscle weakness Abnormality of movement High pitched voice Brisk reflexes Fasciculations Clonus Spastic gait Urinary incontinence Muscle cramps Dysmetria Mental deterioration Ophthalmoplegia Anemia Respiratory paralysis Hyponatremia Hemiparesis Psychosis Hemolytic anemia Tachycardia Abdominal pain Constipation Diarrhea Vomiting Hypertension Pain Abdominal colic Failure to thrive Diaphragmatic paralysis Abnormality of the tongue Achalasia Toe walking Axonal regeneration Hand muscle atrophy Vocal cord paresis Decreased nerve conduction velocity Peripheral demyelination Peroneal muscle atrophy Kyphoscoliosis Wrist drop Elevated urinary delta-aminolevulinic acid Headache Gait ataxia Dysphagia Sensory ataxia Episodic ataxia Slurred speech Leukoencephalopathy Truncal ataxia Clumsiness Progressive neurologic deterioration Progressive cerebellar ataxia Unsteady gait Poor speech Abnormality of the cerebral white matter Tremor Respiratory distress Fever Hyperreflexia Delayed speech and language development Nystagmus Slender build Vocal cord paralysis Tracheomalacia Decreased muscle mass Knee flexion contracture Broad-based gait Inability to walk Muscular hypotonia of the trunk Iron accumulation in substantia nigra


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