Global developmental delay, and Limb muscle weakness

Diseases related with Global developmental delay and Limb muscle weakness

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

Top matches:

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as ri-cmtb|charcot-marie-tooth neuropathy, recessive intermediate b|ri-cmt type b

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Areflexia
  • Hyporeflexia
  • Pes cavus


SOURCES: OMIM ORPHANET MENDELIAN

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

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS Is also known as autosomal recessive axonal charcot-marie-tooth disease type 2k|autosomal recessive axonal cmt4c4|charcot-marie-tooth disease, axonal, autosomal recessive, type 2k|arcmt2k|charcot-marie-tooth neuropathy, axonal, type 2k

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

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

Other less relevant matches:

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

Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48 Is also known as spg48

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

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

PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Limb muscle weakness

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Lower limb muscle weakness Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Abnormal pyramidal sign Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Areflexia Intellectual disability Gait disturbance Spasticity Skeletal muscle atrophy Foot dorsiflexor weakness Generalized hypotonia Distal sensory impairment Babinski sign Hypoplasia of the corpus callosum Dysarthria Hyperreflexia Ataxia Decreased motor nerve conduction velocity Split hand Pes cavus Peripheral axonal neuropathy Onion bulb formation Distal amyotrophy Difficulty walking Axonal loss Scoliosis Distal muscle weakness

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Spastic paraplegia Hammertoe Developmental regression Hypertonia Sensory neuropathy Mental deterioration Paraplegia Cognitive impairment Abnormal cerebellum morphology Mutism Spastic gait Brisk reflexes Progressive spastic paraparesis Polyneuropathy Hearing impairment Urinary incontinence Seizures Decreased nerve conduction velocity Muscle cramps Peripheral demyelination Abnormality of the foot Axonal regeneration Proximal muscle weakness Elevated serum creatine phosphokinase Decreased number of peripheral myelinated nerve fibers Kyphoscoliosis Hyporeflexia Delayed gross motor development Steppage gait Truncal titubation Hypoparathyroidism Iron accumulation in substantia nigra EMG: chronic denervation signs Difficulty standing Growth delay Anarthria Optic atrophy Spastic ataxia Progressive encephalopathy Encephalopathy Spinal muscular atrophy Spastic tetraparesis Severe muscular hypotonia Cerebellar atrophy Cerebral hypomyelination Spastic tetraplegia Cerebral white matter atrophy Focal-onset seizure Tetraplegia Tremor Lower limb amyotrophy Loss of ability to walk Hypertrophic nerve changes Cataract Cold-induced muscle cramps Muscular hypotonia of the trunk Intellectual disability, moderate Congenital cataract Neck flexor weakness Poor speech Intention tremor Abnormal nervous system electrophysiology Myelin outfoldings Leukodystrophy CNS hypomyelination Axonal degeneration Apnea Ulnar claw Hypopnea Segmental peripheral demyelination/remyelination Demyelinating peripheral neuropathy Titubation Hodgkin lymphoma Neurofibromas Sleep apnea Progressive muscle weakness Lymphoma Motor polyneuropathy Delayed myelination Feeding difficulties Progressive distal muscular atrophy Myoclonus Decreased number of large peripheral myelinated nerve fibers Shoulder girdle muscle weakness Apraxia Abnormality of extrapyramidal motor function Abnormality of the cerebral white matter Abnormality of the nervous system Dementia Dysphagia Abnormal muscle fiber dystrophin expression Pelvic girdle muscle weakness Abnormal left ventricle morphology Myocardial fibrosis Reduced ejection fraction Gowers sign Spastic paraparesis Exercise intolerance Falls Dilated cardiomyopathy Myalgia Behavioral abnormality Muscular hypotonia Hand muscle atrophy Vocal cord paresis Abnormal cranial nerve morphology Talipes equinovarus Vestibular Schwannoma Schwannoma Paraparesis Incoordination Myokymia Urinary bladder sphincter dysfunction Distal lower limb muscle weakness High pitched voice Sensory axonal neuropathy Dysphonia Sensorimotor neuropathy Fasciculations Clonus Sensory impairment Flexion contracture Hyperintensity of cerebral white matter on MRI Abnormality of the cervical spine Abnormality of the periventricular white matter Bulbar signs Progressive spastic paraplegia Lower limb spasticity Broad-based gait Parkinsonism Dysmetria Retinopathy Akinetic mutism Frontotemporal cerebral atrophy Personality disorder Dysgraphia Primitive reflex Abnormality of peripheral nerve conduction Progressive cataract


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