Nystagmus, and Limb muscle weakness

Diseases related with Nystagmus and Limb muscle weakness

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


Top matches:

Low 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

Low 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

Low match LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME


LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

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Other less relevant matches:

Low 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

Low 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

Low match ARNOLD-CHIARI MALFORMATION TYPE II


Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Low 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

Low match X-LINKED PROGRESSIVE CEREBELLAR ATAXIA


SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar AtaxiaX-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (OMIM ), SCAX3 (OMIM ), SCAX4 (OMIM ), and SCAX5 (OMIM ).

X-LINKED PROGRESSIVE CEREBELLAR ATAXIA Is also known as olivopontocerebellar atrophy, x-linked|opca, x-linked|opcax

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED PROGRESSIVE CEREBELLAR ATAXIA

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


Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B Is also known as charcot-marie-tooth disease, autosomal dominant, type 2b|charcot-marie-tooth neuropathy, type 2b|cmt2b|hmsn iib|hmsn2b|hereditary motor and sensory neuropathy iib

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

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

Low match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1


Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

Top 5 symptoms//phenotypes associated to Nystagmus and Limb muscle weakness

Symptoms // Phenotype % cases
Pes cavus Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Nystagmus and Limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sensory impairment Cerebellar atrophy Areflexia Lower limb muscle weakness Distal sensory impairment Dysarthria Motor delay Muscle weakness Generalized hypotonia Distal amyotrophy Distal muscle weakness Steppage gait Gait ataxia Abnormality of the foot Spasticity Sensorimotor neuropathy Fasciculations Progressive cerebellar ataxia Hyperreflexia Gait disturbance Babinski sign Foot dorsiflexor weakness Hyporeflexia Dysmetria Decreased motor nerve conduction velocity Limb ataxia Sensory axonal neuropathy Axonal degeneration

Rare Symptoms - Less than 30% cases


Paralysis Miosis Spinocerebellar tract degeneration Tongue fasciculations Tongue atrophy Muscular hypotonia Kyphoscoliosis Cerebellar vermis atrophy Axonal loss Pain Dysphagia Onion bulb formation Incoordination Decreased number of peripheral myelinated nerve fibers Spastic dysarthria Sensory neuropathy Hammertoe Peripheral axonal neuropathy Sensory ataxia Generalized muscle weakness Strabismus Clumsiness Lower limb hyperreflexia Lower limb spasticity Hearing impairment Proximal muscle weakness Unsteady gait Peripheral demyelination Split hand Polyneuropathy Telangiectasia Abnormal pyramidal sign Distal lower limb muscle weakness Slow saccadic eye movements Distal lower limb amyotrophy Action tremor Progressive gait ataxia EMG: neuropathic changes Pain insensitivity Progressive spasticity Dysdiadochokinesis Frequent falls Intention tremor Neonatal hypotonia Paraplegia Tremor Prolonged brainstem auditory evoked potentials Abnormal pupillary light reflex Segmental peripheral demyelination Basal lamina onion bulb formation Peripheral axonal degeneration Decreased number of large peripheral myelinated nerve fibers Upper limb muscle weakness Abnormal cranial nerve morphology Facial palsy Difficulty walking Impaired vibration sensation in the lower limbs Saccadic smooth pursuit Apraxia Absent Achilles reflex Brain atrophy Immunodeficiency Neoplasm Seizures Intellectual disability Autoamputation of foot Foot osteomyelitis Peripheral axonal atrophy Foot pain Axonal degeneration/regeneration Oculomotor apraxia Dystrophic toenail Difficulty standing Reduced tendon reflexes Hypercholesterolemia Abnormality of the nervous system Hypoalbuminemia Spastic paraplegia Pes planus Diabetes mellitus Abnormality of eye movement Cervical myelopathy Decreased/absent ankle reflexes Global brain atrophy Gaze-evoked nystagmus Occipital neuralgia Syringomyelia Inspiratory stridor Congenital nystagmus Talipes equinovarus Waddling gait Spastic ataxia Difficulty running Atrophy/Degeneration affecting the brainstem Impaired vibratory sensation Abnormality of extrapyramidal motor function Optic atrophy Microcoria Limited extraocular movements Congenital nephrotic syndrome Gowers sign Neurodevelopmental delay Postural instability Focal segmental glomerulosclerosis Glomerulosclerosis Chronic kidney disease Nephrotic syndrome Retinal detachment Abnormality of skin pigmentation Stage 5 chronic kidney disease Abnormality of the kidney Proteinuria Renal insufficiency Edema Myopia Respiratory distress Inability to walk Bulbar signs Headache Myelomeningocele Ptosis Weak cry Partial agenesis of the corpus callosum Opisthotonus Stridor Arnold-Chiari malformation Spina bifida Heterotopia Cyanosis Apnea Agenesis of corpus callosum Hydrocephalus Infantile muscular hypotonia Ankle clonus Feeding difficulties Hypertrophic nerve changes Ulnar claw Segmental peripheral demyelination/remyelination Pes valgus Demyelinating peripheral neuropathy Increased CSF protein Hyperreflexia in upper limbs Functional abnormality of the bladder Myopathy Elevated serum creatine phosphokinase Impaired distal proprioception



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