Motor delay, and Pes cavus

Diseases related with Motor delay and Pes cavus

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

Top matches:

Autosomal dominant Charcot-Marie-Tooth disease type 2O is a rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O Is also known as charcot-marie-tooth neuropathy, axonal, type 2o|cmt2o|charcot-marie-tooth disease, axonal, autosomal dominant, type 2o

Related symptoms:

  • Pain
  • Motor delay
  • Peripheral neuropathy
  • Gait disturbance
  • Hyporeflexia


SOURCES: OMIM ORPHANET MENDELIAN

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

Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4H Is also known as cmt4h|charcot-marie-tooth disease, autosomal recessive, type 4h|charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h|charcot-marie-tooth neuropathy, type 4h

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

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

Other less relevant matches:

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

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

Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE TYPE 2S Is also known as charcot-marie-tooth neuropathy, type 2s|cmt2s|charcot-marie-tooth disease, axonal, autosomal recessive, type 2s

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

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

CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY 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

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

Top 5 symptoms//phenotypes associated to Motor delay and Pes cavus

Symptoms // Phenotype % cases
Distal muscle weakness Common - Between 50% and 80% cases
Distal sensory impairment Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Peripheral neuropathy

Uncommon Symptoms - Between 30% and 50% cases

Decreased motor nerve conduction velocity Ataxia Generalized hypotonia Sensory impairment Gait disturbance Onion bulb formation Steppage gait Decreased number of peripheral myelinated nerve fibers Limb muscle weakness Abnormality of the foot Distal amyotrophy Dysarthria Intellectual disability Skeletal muscle atrophy Peripheral demyelination Cerebellar atrophy Scoliosis Unsteady gait Nystagmus Axonal degeneration Proximal muscle weakness Lower limb muscle weakness

Rare Symptoms - Less than 30% cases

Delayed speech and language development Babinski sign Spasticity Myopathy Polyneuropathy Elevated serum creatine phosphokinase Infantile muscular hypotonia Hearing impairment Dystonia Segmental peripheral demyelination/remyelination Sensory ataxia Kyphoscoliosis Foot dorsiflexor weakness Sensorimotor neuropathy Paresthesia Peripheral axonal neuropathy Falls Frequent falls Abnormal pyramidal sign Talipes equinovarus Waddling gait Gowers sign Paralysis Progressive cerebellar ataxia Clumsiness Demyelinating peripheral neuropathy Axonal regeneration Myelin outfoldings Diaphragmatic weakness Hyperactive deep tendon reflexes Calf muscle hypertrophy Gait imbalance Progressive peripheral neuropathy Shoulder pain Decreased sensory nerve conduction velocity Acute demyelinating polyneuropathy Spontaneous pain sensation Pain Clusters of axonal regeneration Central hypothyroidism Postural instability Inability to walk Hypertrophic nerve changes Upper limb postural tremor Abnormality of the immune system Hammertoe Abnormal cerebellum morphology Abnormality of movement Gait ataxia Tremor Progressive distal muscle weakness Short stature Progressive hearing impairment Type I diabetes mellitus Postnatal growth retardation Intellectual disability, moderate Hypoglycemia Hypothyroidism Diabetes mellitus Hypogonadism Cerebellar hypoplasia Growth delay Glucose intolerance Long fingers Diaphragmatic paralysis Vocal cord paralysis Cognitive impairment Failure to thrive Global developmental delay Seizures Myelin tomacula Basal lamina onion bulb formation Vocal cord paresis Decreased number of large peripheral myelinated nerve fibers Sensory neuropathy Intellectual disability, severe Difficulty walking Small hypothenar eminence Distal lower limb muscle weakness Distal lower limb amyotrophy Upper limb muscle weakness CNS hypomyelination Limb pain Lower limb pain Difficulty running High palate Behavioral abnormality Abnormality of the tongue Cerebral atrophy Achalasia Sensory axonal neuropathy Toe walking Respiratory insufficiency Loss of ability to walk Delayed ability to walk Dysmetria Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Autism Dysphagia Abnormality of creatine metabolism Organic aciduria Progressive proximal muscle weakness Decreased muscle mass Language impairment Failure to thrive in infancy Aciduria Autistic behavior Split hand


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