Nystagmus, and Pes cavus

Diseases related with Nystagmus and Pes cavus

In the following list you will find some of the most common rare diseases related to Nystagmus and Pes cavus that can help you solving undiagnosed cases.


Top matches:

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7


Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7

Medium match SPINOCEREBELLAR ATAXIA TYPE 18


Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 18 Is also known as sca18

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 18

Medium match SPINOCEREBELLAR ATAXIA 43; SCA43


Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 43; SCA43

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match ROUSSY-LÉVY SYNDROME


ROUSSY-LÉVY SYNDROME Is also known as hereditary areflexic dystasia, roussy-lÉvy type|roussy-levy syndrome

Related symptoms:

  • Ataxia
  • Nystagmus
  • Motor delay
  • Tremor
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROUSSY-LÉVY SYNDROME

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76


Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76 Is also known as spg76

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76

Medium match CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG


CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Medium match AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE


Autosomal recessive ataxia, Beauce type is characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.

AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE Is also known as cerebellar ataxia, autosomal recessive, type 1|ataxia, recessive, of beauce|autosomal recessive cerebellar ataxia type 1|scar8|arca1

Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE

Medium match SPINOCEREBELLAR ATAXIA TYPE 27


Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 27 Is also known as sca27|cerebellar ataxia, autosomal dominant, fgf14-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 27

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

Top 5 symptoms//phenotypes associated to Nystagmus and Pes cavus

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Sensory impairment Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Nystagmus and Pes cavus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cerebellar atrophy

Uncommon Symptoms - Between 30% and 50% cases


Distal sensory impairment

Common Symptoms - More than 50% cases


Gait ataxia

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the foot Gait disturbance Areflexia Motor delay Lower limb muscle weakness Dysmetria Distal muscle weakness Limb ataxia Distal amyotrophy Muscle weakness Hyporeflexia Polyneuropathy Generalized hypotonia Kyphoscoliosis Decreased motor nerve conduction velocity Onion bulb formation Scoliosis Limb muscle weakness Fasciculations Tremor Babinski sign Spasticity Hearing impairment

Rare Symptoms - Less than 30% cases


Tongue atrophy Steppage gait Hyperreflexia Hypertrophic nerve changes Segmental peripheral demyelination/remyelination Decreased number of peripheral myelinated nerve fibers Difficulty walking Hammertoe Clumsiness Progressive cerebellar ataxia Split hand Tongue fasciculations Peripheral demyelination Axonal degeneration Sensorimotor neuropathy Sensory ataxia Head tremor Impaired vibratory sensation Lower limb hyperreflexia Unsteady gait Sensory axonal neuropathy Peripheral axonal neuropathy Generalized muscle weakness Sensory neuropathy Akinesia Postural tremor Truncal ataxia Memory impairment Strabismus Intellectual disability, severe Intellectual disability Intellectual disability, mild Aggressive behavior Microcephaly Cognitive impairment Segmental peripheral demyelination Abnormal pupillary light reflex Depressivity Dyskinesia Demyelinating peripheral neuropathy Basal lamina onion bulb formation Muscular hypotonia Increased CSF protein Incoordination Ulnar claw Infantile muscular hypotonia Foot dorsiflexor weakness Paralysis Respiratory distress Talipes equinovarus Facial palsy Abnormal cranial nerve morphology Red-green dyschromatopsia Gaze-evoked nystagmus Abnormality of ocular smooth pursuit Paroxysmal dyskinesia Upper limb muscle weakness Dysmetric saccades Decreased number of large peripheral myelinated nerve fibers Miosis Peripheral axonal degeneration Orofacial dyskinesia Impaired smooth pursuit Hand tremor Dysgraphia Lower limb spasticity Spastic ataxia Hyporeflexia of lower limbs Palmomental reflex Limb pain Hypometric saccades Cogwheel rigidity Distal lower limb amyotrophy Cerebellar vermis atrophy Pectus carinatum Rigidity Pain Titubation Falls Muscle fibrillation Loss of ability to walk Delayed ability to walk Muscular hypotonia of the trunk Cerebral atrophy Dystonia Hypoplasia of the corpus callosum Dysphagia Delayed speech and language development Abnormality of movement Abnormal cerebellum morphology Difficulty running Myopathy Atrophy/Degeneration affecting the brainstem Abnormality of extrapyramidal motor function Optic atrophy Gowers sign Waddling gait Postural instability Inability to walk Proximal muscle weakness Elevated serum creatine phosphokinase Functional abnormality of the bladder Frequent falls Hyperreflexia in upper limbs Pes valgus Ankle clonus Progressive spasticity Paraplegia Abnormality of eye movement Spastic paraplegia Abnormality of the nervous system Upper limb postural tremor Abnormality of the immune system Prolonged brainstem auditory evoked potentials



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Thin vermilion border, related diseases and genetic alterations Intellectual disability, severe and Encephalopathy, related diseases and genetic alterations Lymphoma and Paraplegia, related diseases and genetic alterations Edema and Facial asymmetry, related diseases and genetic alterations Pain and Atopic dermatitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more