Hyperreflexia, and Muscle cramps

Diseases related with Hyperreflexia and Muscle cramps

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

Top matches:

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5 Is also known as spinal muscular atrophy, distal, with upper limb predominance|dhmn va|hmn5|hmn va|neuropathy, distal hereditary motor, type va|distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, type va|dsmav|dhmn5|distal hereditary motor neuropathy ty

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5

Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37 Is also known as spg37

Related symptoms:

  • Seizures
  • Hyperreflexia
  • Fatigue
  • Babinski sign
  • Difficulty walking


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37

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

Other less relevant matches:

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

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

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

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

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

KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME Is also known as kyphoscoliosis-lateral tongue atrophy-hsp syndrome

Related symptoms:

  • Intellectual disability
  • Pain
  • Dysphagia
  • Talipes equinovarus
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME

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

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

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Spastic gait Common - Between 50% and 80% cases
Lower limb muscle weakness Common - Between 50% and 80% cases
Clonus Uncommon - Between 30% and 50% cases
Progressive spastic paraplegia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lower limb spasticity Paraplegia Spasticity Urinary incontinence Difficulty walking Spastic paraplegia Pes cavus Seizures EMG abnormality Abnormal lower-limb motor evoked potentials Progressive pes cavus Spinal cord lesion Abnormality of the cerebrospinal fluid Degeneration of the lateral corticospinal tracts Impaired vibration sensation in the lower limbs Peripheral neuropathy Lower limb hyperreflexia Urinary urgency Muscle weakness Ankle clonus Dysarthria Fasciculations Ataxia Lower limb amyotrophy Pain Limb ataxia Hyperreflexia in upper limbs Urinary bladder sphincter dysfunction Hypertonia Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases

Myokymia Hyporeflexia Flexion contracture Postural tremor Distal muscle weakness Progressive cerebellar ataxia Progressive spasticity Proximal muscle weakness Male sexual dysfunction Female sexual dysfunction Limb muscle weakness Knee clonus Generalized hypotonia Areflexia Impaired proprioception Hearing impairment Dysphagia Impaired vibratory sensation Hammertoe Tremor Distal sensory impairment Sensory impairment Upper limb spasticity Brisk reflexes Sensory axonal neuropathy Onion bulb formation Dysphonia High pitched voice Distal lower limb muscle weakness Foot dorsiflexor weakness Sensorimotor neuropathy Split hand Esotropia Sensory neuropathy Peripheral axonal neuropathy Abnormal pyramidal sign Motor delay Scoliosis Global developmental delay Decreased number of large peripheral myelinated nerve fibers Bowel incontinence Limb dysmetria Peroneal muscle atrophy Low back pain Anxiety Cerebral atrophy Neck flexor weakness Muscle fibrillation Nausea Inability to walk Postural instability Episodic ataxia Hypomagnesemia Cerebellar vermis atrophy Blurred vision Unsteady gait Abnormality of the hand Incoordination Slurred speech Hyperkinesis Cerebral palsy Muscle stiffness Choreoathetosis Vertigo Myoclonus Intellectual disability Delayed gross motor development Talipes equinovarus Cerebellar atrophy Tetany Cyanosis Kyphoscoliosis Knee flexion contracture Toe walking Elevated serum creatine phosphokinase Difficulty running Tongue atrophy Difficulty standing Proximal muscle weakness in upper limbs Abnormal levels of creatine kinase in blood Upper limb amyotrophy Headache Rigidity Optic disc pallor Back pain Dystonia Abnormality of the substantia nigra Olivopontocerebellar hypoplasia Cerebral white matter atrophy Supranuclear ophthalmoplegia Kinetic tremor Abnormal cortical gyration Slow saccadic eye movements Hyperactive deep tendon reflexes Ophthalmoparesis Chorea Parkinsonism Gait ataxia Cerebral cortical atrophy Dementia Nystagmus Spinal cord posterior columns myelin loss Hand muscle weakness Pes planus Distal amyotrophy Spinal muscular atrophy Limb hypertonia Motor axonal neuropathy Upper limb muscle weakness Lower limb hypertonia Fatigue Thenar muscle atrophy Peroneal muscle weakness Thenar muscle weakness First dorsal interossei muscle weakness First dorsal interossei muscle atrophy Cold-induced hand cramps Abnormality of the spinocerebellar tracts Cerebellar Purkinje layer atrophy Arthralgia Dyschromatopsia Visual field defect Scotoma Optic neuropathy Central scotoma Severe vision loss Progressive external ophthalmoplegia Leber optic atrophy Abnormality of mitochondrial metabolism Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Temporal optic disc pallor Abnormal amplitude of pattern reversal visual evoked potentials Gait disturbance Abnormality of color vision External ophthalmoplegia Abnormal cell morphology Visual loss Strabismus Sensorineural hearing impairment Visual impairment Optic atrophy Blindness Myopathy Glaucoma Horizontal nystagmus Reduced visual acuity Abnormality of the eye Pallor Ophthalmoplegia Neurodegeneration Progressive visual loss Facial myokymia


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