Ataxia, and Muscle cramps

Diseases related with Ataxia and Muscle cramps

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


Top matches:

Low match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Low match SPINOCEREBELLAR ATAXIA TYPE 2


Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Low match OPTIC ATROPHY 1; OPA1


Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8


Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8 Is also known as spg8

Related symptoms:

  • Ataxia
  • Pain
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12


Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12 Is also known as spg12

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Babinski sign


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 19


Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 19 Is also known as spg19

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Babinski sign
  • Difficulty walking


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 19

Low match AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT


Autosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).

AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT Is also known as optic atrophy and cataract, autosomal dominant|opa3, autosomal dominant|autosomal dominant optic atrophy type 3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT

Low match EPISODIC ATAXIA, TYPE 1; EA1


Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Low match MACHADO-JOSEPH DISEASE TYPE 1


Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 1 Is also known as spinocerebellar ataxia type 3, joseph type|sca3, joseph type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 1

Low match MACHADO-JOSEPH DISEASE TYPE 2


Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 2 Is also known as sca3, thomas type|spinocerebellar ataxia, thomas type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Ataxia and Muscle cramps

Symptoms // Phenotype % cases
Hyperreflexia Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Difficulty walking Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Muscle cramps. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Spastic paraplegia Paraplegia Spastic gait Progressive cerebellar ataxia Skeletal muscle atrophy Pes cavus Tremor Abnormality of the cerebrospinal fluid Lower limb muscle weakness Abnormality of extrapyramidal motor function Cerebellar atrophy Seizures Progressive external ophthalmoplegia Pain Abnormal lower-limb motor evoked potentials Dysphagia Urinary incontinence Spinal cord lesion Lower limb spasticity Limb ataxia Progressive pes cavus EMG abnormality Urinary urgency Supranuclear ophthalmoplegia Impaired vibration sensation in the lower limbs Urinary bladder sphincter dysfunction Degeneration of the lateral corticospinal tracts Progressive spastic paraplegia Clonus Postural tremor Fasciculations Sensory impairment Dystonia

Rare Symptoms - Less than 30% cases


Ankle clonus Male sexual dysfunction Female sexual dysfunction Knee clonus Hyperreflexia in upper limbs Lower limb amyotrophy Impaired proprioception Areflexia Lower limb hyperreflexia Rigidity Hyporeflexia Elevated serum creatine phosphokinase Dementia Distal sensory impairment Progressive spasticity Muscle weakness Myopathy Unsteady gait Red-green dyschromatopsia Vocal cord paralysis Degeneration of the striatum Substantia nigra gliosis Abnormality of temperature regulation Dilated fourth ventricle Upper motor neuron dysfunction Neurogenic bladder Spinocerebellar tract degeneration Distal lower limb amyotrophy Progressive gait ataxia Gait disturbance Gaze-evoked nystagmus Vestibular dysfunction Diplopia Clumsiness Memory impairment Sleep disturbance Abnormal pyramidal sign Proptosis Delayed speech and language development Tritanomaly Facial-lingual fasciculations Blindness Nystagmus Optic atrophy Reduced visual acuity Visual impairment Central scotoma Leber optic atrophy Inability to walk Slurred speech Hyperkinesis Cerebral palsy Muscle stiffness Choreoathetosis Cyanosis Esotropia Postural instability Vertigo Nausea Abnormality of the hand Myoclonus Headache Hypertonia Flexion contracture Posterior cortical cataract Anterior cortical cataract Anterior subcapsular cataract Deviation of the 2nd finger Extrapyramidal muscular rigidity Limited wrist movement Incoordination Cerebellar vermis atrophy Blurred vision Cerebellar Purkinje layer atrophy Hyperactive deep tendon reflexes Slow saccadic eye movements Abnormal cortical gyration Kinetic tremor Chorea Cerebral white matter atrophy Olivopontocerebellar hypoplasia Abnormality of the substantia nigra Abnormality of the spinocerebellar tracts Spinal cord posterior columns myelin loss Abnormal cell morphology Muscle fibrillation Hearing impairment Strabismus Sensorineural hearing impairment Parkinsonism Gait ataxia Facial myokymia Myokymia Tetany Episodic ataxia Hypomagnesemia Positive Romberg sign Cerulean cataract Dyslexia Areflexia of lower limbs Severe vision loss Peroneal muscle atrophy Upper limb spasticity Visual field defect Low back pain Scotoma Intention tremor Progressive muscle weakness Optic neuropathy Back pain Ragged-red muscle fibers Spinal muscular atrophy Limb dysmetria Hammertoe Calf muscle hypertrophy Amyotrophic lateral sclerosis Mitochondrial myopathy Arthralgia Frontotemporal dementia Bulbar signs Generalized hypotonia Abnormal amplitude of pattern reversal visual evoked potentials Temporal optic disc pallor Centrocecal scotoma Pes planus Abnormality of color vision Absent Achilles reflex Anxiety Dyschromatopsia Abnormality of the thumb Posterior subcapsular cataract Resting tremor Limited elbow extension Reduced tendon reflexes Paresthesia Visual loss Abnormality of the nervous system Glaucoma Cataract Proximal muscle weakness Abnormality of mitochondrial metabolism Abnormality of the eye Pallor Cerebral cortical atrophy Ophthalmoplegia Neurodegeneration Progressive visual loss Optic disc pallor Bowel incontinence Ophthalmoparesis Horizontal nystagmus External ophthalmoplegia Impaired vibratory sensation



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