Ataxia, and Distal muscle weakness

Diseases related with Ataxia and Distal muscle weakness

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


Top matches:

Low match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Low match SPINOCEREBELLAR ATAXIA TYPE 38


Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 38 Is also known as sca38

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 38

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39


This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

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Other less relevant matches:

Low match ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY


Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|aidp|acute inflammatory polyneuropathy|acute idiopathic demyelinating polyneuropathy|gbs, acute inflammatory demyelinating polyradiculoneuropathic form

Related symptoms:

  • Generalized hypotonia
  • Hyporeflexia
  • Gait ataxia
  • Unsteady gait
  • Drooling


SOURCES: ORPHANET MENDELIAN

More info about ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4F


Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4F Is also known as cmt4f

Related symptoms:

  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4F

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26


Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 2P


Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2P Is also known as cmt2p|charcot-marie-tooth disease, axonal, type 2g, formerly|cmt2g, formerly|charcot-marie-tooth neuropathy, type 2p

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2P

Low match SPINOCEREBELLAR ATAXIA TYPE 43


Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

SPINOCEREBELLAR ATAXIA TYPE 43 Is also known as sca43

Related symptoms:

  • Pain
  • Dysarthria
  • Areflexia
  • Hyporeflexia
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 43

Low 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

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


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

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

Top 5 symptoms//phenotypes associated to Ataxia and Distal muscle weakness

Symptoms // Phenotype % cases
Distal sensory impairment Common - Between 50% and 80% cases
Distal amyotrophy Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Distal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Hyporeflexia Sensory impairment Peripheral axonal neuropathy Pes cavus Gait disturbance Decreased number of peripheral myelinated nerve fibers Onion bulb formation Unsteady gait Foot dorsiflexor weakness Difficulty walking Decreased motor nerve conduction velocity Steppage gait Sensory neuropathy Abnormality of the foot Skeletal muscle atrophy Limb ataxia Distal lower limb muscle weakness Sensorimotor neuropathy Cerebellar atrophy Nystagmus Dysarthria

Rare Symptoms - Less than 30% cases


Axonal degeneration Hammertoe Frequent falls Motor delay Tremor Segmental peripheral demyelination/remyelination Pain Peripheral axonal degeneration Limb muscle weakness Lower limb muscle weakness Peripheral demyelination Babinski sign Decreased number of large peripheral myelinated nerve fibers Sensory ataxia Falls Neutropenia Hypermetric saccades Glomerulosclerosis Paresthesia Focal segmental glomerulosclerosis Positive Romberg sign Edema Dysdiadochokinesis Fasciculations Oculomotor apraxia Decreased nerve conduction velocity Cataract Toe walking Cerebellar vermis atrophy Clumsiness Abnormal cerebellum morphology Abnormality of movement Abnormality of the immune system Kyphoscoliosis Distal upper limb muscle weakness Hypometric saccades Cogwheel rigidity Progressive cerebellar ataxia Impotence Pectus carinatum Apraxia Dementia Axonal degeneration/regeneration Impaired distal vibration sensation Progressive distal muscle weakness Upper limb postural tremor Difficulty standing Hypertrophic nerve changes Rimmed vacuoles Dysmetria Proximal muscle weakness Paraplegia Spastic paraplegia Abnormality of the skeletal system Hyperreflexia Cognitive impairment Spasticity Slow saccadic eye movements Progressive gait ataxia Muscular dystrophy Spastic gait EMG: myopathic abnormalities Limb-girdle muscular dystrophy Behavioral abnormality Alzheimer disease Deposits immunoreactive to beta-amyloid protein Morphological abnormality of the central nervous system Muscle fiber atrophy Limb-girdle muscle weakness Lower limb spasticity Progressive spastic paraplegia Dysphagia Impaired oropharyngeal swallow response Myelin tomacula Basal lamina onion bulb formation Vocal cord paresis Vocal cord paralysis Myositis Paralysis Myopathy Scoliosis Sleepy facial expression Motor axonal neuropathy Acute demyelinating polyneuropathy Dysesthesia EMG: neuropathic changes Episodic fever Drooling Elevated serum creatine phosphokinase Generalized hypotonia Generalized limb muscle atrophy Atrophy of the spinal cord Segmental peripheral demyelination



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