Global developmental delay, and Generalized muscle weakness

Diseases related with Global developmental delay and Generalized muscle weakness

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

Top matches:

X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.

HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia|gamstorp disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS; HYPP

PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC Is also known as paralysis periodica paramyotonica

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

Other less relevant matches:

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Related symptoms:

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY Is also known as n-acyl-l-amino acid amidohydrolase deficiency|acy1d

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND Is also known as myopathy, congenital, with neuropathy and deafness|cmnd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY Is also known as mitochondrial encephalomyopathy due to coxpd6|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|encephalomyopathy, mitochondrial, x-linked

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

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

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Neonatal hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Feeding difficulties Skeletal muscle atrophy Constipation Flexion contracture High palate Peripheral neuropathy Hearing impairment Myotonia Respiratory insufficiency Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases

Areflexia Short stature Microcephaly Ventriculomegaly Intellectual disability, moderate Paralysis Severe muscular hypotonia Hypomagnesemia Scoliosis Moderate global developmental delay Hypertrophic cardiomyopathy Delayed speech and language development Distal muscle weakness Autophagic vacuoles Facial palsy Ragged-red muscle fibers Low-set ears Encephalopathy Lid lag on downgaze Muscle stiffness Pain Skeletal muscle hypertrophy Loss of consciousness Progressive muscle weakness Periodic paralysis Myalgia Abnormal facial shape Periodic hyperkalemic paralysis Limited extraocular movements Right bundle branch block Proximal muscle weakness in lower limbs Difficulty running Central hypotonia Difficulty climbing stairs Limb-girdle muscle weakness Progressive proximal muscle weakness Hypokinesia Hypoventilation Increased CSF lactate Ventricular hypertrophy Bundle branch block Gowers sign Left ventricular hypertrophy Lower limb muscle weakness Limb muscle weakness Lethargy Muscular dystrophy Proximal muscle weakness Elevated hepatic transaminase Kyphoscoliosis Abnormal corpus striatum morphology Increased serum pyruvate Abnormality of the basal ganglia Increased connective tissue Tongue fasciculations Micrognathia Recurrent lower respiratory tract infections Ptosis Cachexia Malabsorption Unsteady gait Abdominal distention Hepatic fibrosis Decreased liver function External ophthalmoplegia Leukoencephalopathy Hypokalemia Abnormality of the cerebral white matter Bilateral talipes equinovarus Malnutrition Celiac disease Mitochondrial myopathy Progressive external ophthalmoplegia Slender build Gastrointestinal dysmotility Ophthalmoplegia Hypoglycemia Pes cavus Exercise intolerance Dyspnea Gastroesophageal reflux Retrognathia Rigidity Joint laxity Pectus carinatum Abnormal lung morphology Poor head control Respiratory failure Bulbar palsy Spinal rigidity Centrally nucleated skeletal muscle fibers Chronic lung disease Ataxia Growth delay Talipes equinovarus Abdominal pain Sensory axonal neuropathy Cerebral visual impairment Increased variability in muscle fiber diameter Sensorineural hearing impairment Vertigo Hyperactive deep tendon reflexes Abnormal myelination Hypermagnesiuria Intellectual disability Hypertelorism Muscular hypotonia Autistic behavior Wide nasal bridge Cerebellar atrophy Vomiting Hypertonia Cerebral atrophy Dilatation Poor speech Obesity Abnormality of the nervous system Stridor Cardiomyopathy Pneumonia Clinodactyly Ketosis Episodic flaccid weakness Laryngomalacia Hyperkalemia Headache Hand muscle weakness Inspiratory stridor Percussion myotonia Handgrip myotonia Neonatal inspiratory stridor Paradoxical myotonia Hyperactivity Muscular hypotonia of the trunk Respiratory insufficiency due to muscle weakness Developmental regression Motor axonal neuropathy Demyelinating peripheral neuropathy Demyelinating motor neuropathy Respiratory distress Hyporeflexia Feeding difficulties in infancy Irritability Generalized amyotrophy Polyneuropathy Tetraplegia Increased serum lactate Bradykinesia Involuntary movements Fasciculations Ankle contracture Myopathic facies Apnea Opisthotonus Wide nose Inability to walk Febrile seizures Absence seizures Aplasia/Hypoplasia of the corpus callosum Hemiplegia Limb hypertonia Distal amyotrophy Syringomyelia Delayed CNS myelination Acute encephalopathy Aplasia/Hypoplasia of the cerebellar vermis Visual impairment Absent speech Peripheral axonal neuropathy Sensory ataxic neuropathy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Pectus carinatum, related diseases and genetic alterations Visual impairment and Limb-girdle muscular dystrophy, related diseases and genetic alterations Muscular hypotonia and Arthralgia, related diseases and genetic alterations Generalized hypotonia and Abnormality of the kidney, related diseases and genetic alterations Cryptorchidism and Lymphopenia, related diseases and genetic alterations Microphthalmia and Increased serum lactate, related diseases and genetic alterations