Motor delay, and Lower limb muscle weakness

Diseases related with Motor delay and Lower limb muscle weakness

In the following list you will find some of the most common rare diseases related to Motor delay and Lower limb muscle weakness 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:

Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Muscular hypotonia
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS

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

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

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

Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21 Is also known as mast syndrome|spg21|spastic paraplegia 21, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Motor delay
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21

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 Motor delay and Lower limb muscle weakness

Symptoms // Phenotype % cases
Distal muscle weakness Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Pes cavus Common - Between 50% and 80% cases
Distal sensory impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance Limb muscle weakness Scoliosis Skeletal muscle atrophy Sensory impairment Decreased motor nerve conduction velocity Areflexia Onion bulb formation Steppage gait Peripheral demyelination Ataxia Hyporeflexia Distal amyotrophy Abnormality of the foot Generalized hypotonia Nystagmus Difficulty walking Unsteady gait Waddling gait Decreased number of peripheral myelinated nerve fibers Sensory ataxia Axonal degeneration

Rare Symptoms - Less than 30% cases

Hearing impairment Gowers sign Muscle cramps Elevated serum creatine phosphokinase Myopathy Spasticity Dysarthria Babinski sign Global developmental delay Proximal muscle weakness Polyneuropathy Split hand Dysphagia Facial palsy Incoordination Fasciculations Muscular hypotonia Generalized muscle weakness Kyphoscoliosis Foot dorsiflexor weakness Falls Talipes equinovarus Paralysis Upper limb muscle weakness Basal lamina onion bulb formation Decreased number of large peripheral myelinated nerve fibers Peripheral axonal degeneration Hypertonia Hypoplasia of the corpus callosum Tongue atrophy Hyperreflexia Hypertrophic nerve changes Ulnar claw Segmental peripheral demyelination/remyelination Spastic paraparesis Dementia Miosis Demyelinating peripheral neuropathy Increased CSF protein Hammertoe Segmental peripheral demyelination Infantile muscular hypotonia Abnormal pupillary light reflex Tongue fasciculations Abnormality of peripheral nerve conduction Abnormal cranial nerve morphology Abnormal pyramidal sign Primitive reflex Apraxia Abnormality of extrapyramidal motor function Abnormal cerebellum morphology Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Mental deterioration Paraparesis Dysgraphia Mutism Progressive spastic paraparesis Personality disorder Frontotemporal cerebral atrophy Brisk reflexes Abnormality of the nervous system Akinetic mutism Bulbar signs Pain Respiratory distress Sensory neuropathy Exercise intolerance Dilated cardiomyopathy Myalgia Behavioral abnormality Intellectual disability Myelin tomacula Vocal cord paresis Vocal cord paralysis Small hypothenar eminence Shoulder girdle muscle weakness Distal lower limb muscle weakness Distal lower limb amyotrophy CNS hypomyelination Limb pain Lower limb pain Difficulty running Frequent falls Peripheral axonal neuropathy Paresthesia Delayed gross motor development Reduced ejection fraction Increased connective tissue Fatigue Centrally nucleated skeletal muscle fibers Rimmed vacuoles Calf muscle hypertrophy Increased variability in muscle fiber diameter Easy fatigability Scapular winging Progressive muscle weakness Hyperlordosis Flexion contracture Myocardial fibrosis Sensorimotor neuropathy Clumsiness Progressive cerebellar ataxia Postural instability Inability to walk Cerebellar atrophy Abnormal muscle fiber dystrophin expression Pelvic girdle muscle weakness Abnormal left ventricle morphology Prolonged brainstem auditory evoked potentials


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