Hyperreflexia, and Difficulty walking

Diseases related with Hyperreflexia and Difficulty walking

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


Top matches:

High match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61


Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61 Is also known as spg61

Related symptoms:

  • Spasticity
  • Peripheral neuropathy
  • Difficulty walking
  • Spastic paraplegia
  • Paraplegia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61

High match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28


Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28 Is also known as spg28

Related symptoms:

  • Scoliosis
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28

High match AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72


Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72 Is also known as spg72

Related symptoms:

  • Pain
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

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Other less relevant matches:

High match AMYOTROPHIC LATERAL SCLEROSIS TYPE 4


Childhood- and adolescent-onset forms of familial ALS (see ALS1, {105400}) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (OMIM ) and ALS5 (OMIM ).

AMYOTROPHIC LATERAL SCLEROSIS TYPE 4 Is also known as als4|neuronopathy, distal hereditary motor, with pyramidal features|distal hereditary motor neuropathy with upper motor neuron signs|dhmn with upper motor neuron signs

Related symptoms:

  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Gait disturbance
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS TYPE 4

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67


Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Intellectual disability, mild
  • Babinski sign
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

Medium match FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA


Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32


Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32 Is also known as spg32

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32

Medium match SPINOCEREBELLAR ATAXIA TYPE 19/22


Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.

SPINOCEREBELLAR ATAXIA TYPE 19/22 Is also known as sca19/22

Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 19/22

Medium match AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5


Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5

Medium match MEPAN SYNDROME


Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome|dystonia 29|dyt29|autosomal recessive childhood-onset dystonia, dyt29 type|dystonia 29, childhood-onset|mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEPAN SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Difficulty walking

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Spastic gait Uncommon - Between 30% and 50% cases
Spastic paraplegia Uncommon - Between 30% and 50% cases
Paraplegia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hyperreflexia and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Pes cavus Dysarthria Lower limb muscle weakness

Rare Symptoms - Less than 30% cases


Abnormal lower motor neuron morphology Gait disturbance Distal muscle weakness Dyskinesia Abnormal pyramidal sign Nystagmus Amyotrophic lateral sclerosis Ataxia Progressive spasticity Motor delay Intellectual disability Cerebellar atrophy Hypoplasia of the corpus callosum Dystonia Chorea Impaired vibration sensation at ankles Intellectual disability, mild Abnormality of movement Involuntary movements Skeletal muscle atrophy Myoclonus Tremor Lower limb spasticity Rigidity Postural instability Sensory impairment Limb muscle weakness Muscular hypotonia of the trunk Seizures Myokymia Bulbar signs Decreased number of large peripheral myelinated nerve fibers Limb hypertonia Resting tremor Delayed gross motor development Visual impairment Respiratory insufficiency due to muscle weakness Choreoathetosis Optic atrophy Dysphagia Reduced visual acuity Abnormality of the eye Dilated cardiomyopathy Abnormality of eye movement Orofacial dyskinesia Paroxysmal dyskinesia Ophthalmoplegia Diplopia Poor coordination Hyporeflexia Impaired smooth pursuit Cogwheel rigidity Muscle weakness Broad-based gait Limb ataxia Cognitive impairment Facial myokymia Distal amyotrophy Ankle clonus Fasciculations Lower limb hyperreflexia Cerebral atrophy Slurred speech Truncal ataxia Urinary incontinence Generalized amyotrophy Anxiety Unsteady gait Postural tremor Muscle stiffness Memory impairment Pain Abolished vibration sense Impaired tactile sensation Pain insensitivity Distal sensory impairment Peripheral axonal neuropathy Scoliosis Toe walking Hyperactive patellar reflex Abnormality of the Achilles tendon Scissor gait Motor polyneuropathy Abnormality of the knee Absent Achilles reflex Polyneuropathy Sensory neuropathy Inability to walk Impaired vibratory sensation Urinary bladder sphincter dysfunction Hypertonia Global developmental delay Congestive heart failure Cardiomyopathy Generalized hypotonia Aplasia/Hypoplasia of the cerebellar vermis Limb tremor Abnormal myelination Progressive spastic paraplegia Cerebral cortical atrophy Agenesis of corpus callosum Pallor of dorsal columns of the spinal cord Upper limb spasticity Diffuse axonal swelling Peripheral axonal degeneration Abnormal upper motor neuron morphology Degeneration of anterior horn cells Axonal loss Axonal degeneration Brisk reflexes Clonus Abnormality of higher mental function Craniofacial dystonia



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