Ataxia, and Generalized muscle weakness

Diseases related with Ataxia and Generalized muscle weakness

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


Top matches:

Medium match HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS


Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Is also known as hereditary motor and sensory neuropathy type iii|dsn|hmsn3|dss|dejerine-sottas syndrome|cmt3|charcot-marie-tooth disease, type 3|dejerine-sottas neuropathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

Medium match CHARCOT-MARIE-TOOTH DISEASE TYPE 4C


Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4C Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4c|charcot-marie-tooth neuropathy, type 4c|cmt4c

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4C

Medium match PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

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Other less relevant matches:

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY


Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Medium match EPISODIC ATAXIA, TYPE 2; EA2


Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Medium match VESTIBULAR SCHWANNOMA


Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Medium match DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD


DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Medium match KUFOR-RAKEB SYNDROME


Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

KUFOR-RAKEB SYNDROME Is also known as parkinson disease 9, autosomal recessive, juvenile-onset|park9|pallidopyramidal degeneration with supranuclear upgaze paresis and dementia|krppd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about KUFOR-RAKEB SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Generalized muscle weakness

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Generalized muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Motor delay Dystonia Fatigue Nystagmus Intellectual disability Global developmental delay Skeletal muscle atrophy Vomiting Encephalopathy Difficulty walking Facial palsy Spasticity Incoordination Progressive neurologic deterioration Dysphagia Hypertonia Gait disturbance Distal sensory impairment Scoliosis Pain Abnormality of the foot Talipes equinovarus Intention tremor Areflexia Tremor Headache Rigidity Migraine

Rare Symptoms - Less than 30% cases


Unsteady gait Acidosis Ophthalmoplegia Sensorineural hearing impairment Gait ataxia Feeding difficulties Failure to thrive Torticollis Episodic ataxia Chorea Nausea and vomiting Myopathy Blindness Apathy Tinnitus Postural instability Vertigo Optic atrophy Fever Attention deficit hyperactivity disorder Lethargy Hyperactivity Hypoplasia of the corpus callosum Microcephaly Nausea Decreased liver function Hypoglycemia Abdominal pain Paraplegia Ventriculomegaly Gastrointestinal dysmotility Cachexia Ragged-red muscle fibers External ophthalmoplegia Dyskinesia Lactic acidosis Kyphoscoliosis Polyneuropathy Paralysis Sensory ataxia Distal amyotrophy Pes cavus Hyporeflexia Onion bulb formation Lower limb muscle weakness Muscular hypotonia Decreased motor nerve conduction velocity Distal muscle weakness Myoclonus Spastic paraplegia Sensory impairment Fasciculations Hepatic failure Pseudoepiphyses of the metacarpals Spinal cord tumor Aciduria Decreased corneal sensation Vestibular Schwannoma Neuroma Retinal hamartoma Metabolic acidosis Hypertrophic cardiomyopathy Mononeuropathy Elevated hepatic transaminase Hyperactive patellar reflex Peripheral Schwannoma Occasional neurofibromas Unilateral vestibular Schwannoma Juvenile posterior subcapsular lenticular opacities Capsular cataract Abnormality of the liver Hepatomegaly Cardiomyopathy Bilateral vestibular Schwannoma Hypokinesia Poor suck Multiple cafe-au-lait spots Reduced visual acuity Corneal opacity Papule Sensory neuropathy Progressive visual loss Subcutaneous nodule Cafe-au-lait spot Sensorimotor neuropathy Neoplasm of the skin Progressive hearing impairment Increased intracranial pressure Oral-pharyngeal dysphagia Neurofibromas Hamartoma Ependymoma Axonal loss Eyelid apraxia Subcapsular cataract Posterior subcapsular cataract Meningioma Abnormality of the retinal vasculature Astrocytoma Dysgraphia Schwannoma Neoplasm of the central nervous system Lisch nodules Cortical cataract Epiretinal membrane Upgaze palsy Brisk reflexes Difficulty in tongue movements Abnormality of finger Parkinsonism with favorable response to dopaminergic medication Upper motor neuron dysfunction Hyposmia Abnormality of eye movement Supranuclear gaze palsy Confusion Short attention span Diffuse cerebral atrophy Neurodegeneration Visual hallucinations Parkinsonism Hypomimic face Slow saccadic eye movements Brain atrophy Vacuolated lymphocytes Urinary incontinence Bradykinesia Abnormality of extrapyramidal motor function Psychosis Hallucinations Paraparesis Anosmia Akinesia Mask-like facies Blepharospasm Global brain atrophy Bowel incontinence Pulmonary embolism Lower limb hyperreflexia Cogwheel rigidity Abnormal pyramidal sign Cerebellar cortical atrophy Hyperreflexia Opisthotonus Exertional dyspnea Polycythemia Neonatal hypoglycemia Hypothermia Organic aciduria Severe lactic acidosis Prolonged prothrombin time Vegetative state Abnormality of higher mental function Methemoglobinemia Recurrent encephalopathy Cognitive impairment Intellectual disability, mild Pseudobulbar paralysis Stooped posture Cerebral atrophy Leg muscle stiffness Psychotic episodes Babinski sign Dementia Cerebral cortical atrophy Oculogyric crisis Aggressive behavior Hyperreflexia in upper limbs Vertical supranuclear gaze palsy Anarthria Abnormality of the eye Mental deterioration Visual loss Poor eye contact Visual impairment Weight loss Hyperkinesis Encephalitis Trismus Myokymia Facial grimacing Paroxysmal dyskinesia Paroxysmal dystonia Kernicterus Paroxysmal choreoathetosis Staring gaze Ptosis Respiratory insufficiency Neonatal hypotonia Choreoathetosis Increased serum lactate Progressive muscle weakness Aminoaciduria Proximal tubulopathy Short stature Growth delay Low-set ears Constipation Respiratory failure Abnormality of the cerebral white matter Malabsorption Abdominal distention Hepatic fibrosis Involuntary movements Abnormality of movement Hypokalemia Limb muscle weakness Respiratory distress Split hand Foot dorsiflexor weakness Infantile muscular hypotonia Hammertoe Steppage gait Decreased number of peripheral myelinated nerve fibers Increased CSF protein Demyelinating peripheral neuropathy Miosis Segmental peripheral demyelination/remyelination Ulnar claw Hypertrophic nerve changes Peripheral demyelination Neurological speech impairment Axonal degeneration Abnormal cranial nerve morphology Upper limb muscle weakness Tongue fasciculations Decreased number of large peripheral myelinated nerve fibers Tongue atrophy Peripheral axonal degeneration Basal lamina onion bulb formation Segmental peripheral demyelination Abnormal pupillary light reflex Prolonged brainstem auditory evoked potentials Dyspnea Joint stiffness Leukoencephalopathy Bilateral talipes equinovarus Cataract Sleep apnea EEG abnormality Proximal muscle weakness Myalgia Apnea Paresthesia Muscle cramps Abnormal cerebellum morphology Progressive cerebellar ataxia Focal-onset seizure Epileptic encephalopathy Diplopia Horizontal nystagmus CNS hypomyelination Cerebellar atrophy Hemiplegia Focal impaired awareness seizure Ophthalmoparesis Myotonia Loss of consciousness Vestibular dysfunction Gaze-evoked nystagmus Cerebellar vermis atrophy Rhabdomyolysis Malignant hyperthermia Saccadic smooth pursuit Downbeat nystagmus Neoplasm Depressivity Happy demeanor Malnutrition Protruding ear Celiac disease Mitochondrial myopathy Progressive external ophthalmoplegia Hypomagnesemia Slender build Sensory ataxic neuropathy Strabismus Delayed speech and language development Intellectual disability, severe Agenesis of corpus callosum Recurrent respiratory infections Abnormality of the nervous system Respiratory tract infection Coloboma Impaired social interactions Hypermetropia Poor speech Talipes Anal atresia Bulbous nose Inability to walk Esotropia Dandy-Walker malformation Broad-based gait Stereotypy Limb ataxia Molar tooth sign on MRI Poor coordination Lingual dystonia



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