Peripheral neuropathy, and Tremor

Diseases related with Peripheral neuropathy and Tremor

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


Top matches:

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8


Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8

Low match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6


X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6 Is also known as cmt6x|cmtx6|charcot-marie-tooth neuropathy, x-linked dominant, 6

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2D


Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2D Is also known as charcot-marie-tooth disease, neuronal, type 2d|charcot-marie-tooth neuropathy, type 2d|cmt2d

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

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

Low 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

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71


Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71 Is also known as spg71

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71

Low match NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A


Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A Is also known as spinal muscular atrophy, distal, with vocal cord paralysis|neuropathy, distal hereditary motor, type viia|hmn viia|dhmn7a|harper-young myopathy|dhmnvp

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A

Low match SPINOCEREBELLAR ATAXIA TYPE 12


Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B


Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70


Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70 Is also known as spg70

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Intellectual disability, mild
  • Abnormality of movement
  • Nephrotic syndrome


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Tremor

Symptoms // Phenotype % cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Pes cavus Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Difficulty walking Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Tremor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hand tremor Ataxia

Rare Symptoms - Less than 30% cases


Abnormal myelination Postural tremor Spastic gait Sensory impairment Progressive spastic paraplegia Lower limb spasticity Dementia Spinal muscular atrophy Action tremor Distal amyotrophy Abnormality of movement Global developmental delay Skeletal muscle atrophy Seizures Paralysis Intellectual disability, mild Muscle weakness Cerebellar atrophy Dysmetria Unsteady gait Sensory neuropathy Progressive cerebellar ataxia Sensorineural hearing impairment Hearing impairment Gait disturbance Generalized tonic-clonic seizures Nephrotic syndrome Atonic seizures EMG abnormality Sensory axonal neuropathy Gait ataxia Dysarthria Distal muscle weakness Tremor by anatomical site Hoarse voice Vocal cord paralysis Limb dysmetria Vocal cord paresis Limb ataxia Poor fine motor coordination Cognitive impairment Behavioral abnormality Cerebral atrophy Cerebellar hypoplasia Abnormal pyramidal sign Abnormal cerebellum morphology Parkinsonism Bradykinesia Intention tremor Sensorimotor neuropathy Hypokinesia Generalized myoclonic seizures Myoclonus Spastic paraplegia Hypoplasia of the corpus callosum Steppage gait Hammertoe Distal sensory impairment Peripheral axonal neuropathy Scoliosis Hand muscle weakness Distal lower limb muscle weakness Polyneuropathy Thenar muscle atrophy Lower limb muscle weakness Abnormality of the foot Limb muscle weakness Loss of ability to walk Motor delay Delayed speech and language development Generalized hypotonia Upper limb muscle weakness Upper limb amyotrophy Abnormality of higher mental function Memory impairment Impaired vibration sensation at ankles Upper limb spasticity Urinary bladder sphincter dysfunction Toe walking Impaired vibratory sensation Muscle stiffness Paraplegia Peroneal muscle weakness Rigidity Spasticity Pain Cold-induced hand cramps First dorsal interossei muscle atrophy First dorsal interossei muscle weakness Thenar muscle weakness Interstitial pulmonary abnormality



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